Variant report

Variant	rs2280773
Chromosome Location	chr6:31934494-31934495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:31934390-31934926	GM12892	blood:	n/a	n/a
2	POLR2A	chr6:31934297-31935391	K562	blood:	n/a	n/a
3	POLR2A	chr6:31934246-31941332	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:31934391-31934936	GM12892	blood:	n/a	n/a
5	POLR2A	chr6:31934208-31935516	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31656803..31659218-chr6:31933436..31935775,2	K562	blood:
2	chr6:31864068..31872693-chr6:31934470..31941847,12	MCF-7	breast:
3	chr6:31861403..31866645-chr6:31932025..31935945,5	MCF-7	breast:
4	chr6:31801119..31803237-chr6:31933557..31935113,2	K562	blood:
5	chr6:31801119..31803237-chr6:31932731..31935113,3	K562	blood:

No data

Variant related genes	Relation type
STK19	TF binding region
SKIV2L	TF binding region
ENSG00000204387	Chromatin interaction
ENSG00000204366	Chromatin interaction
ENSG00000204371	Chromatin interaction
ENSG00000204427	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000166278	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2071290	1.00[AFR][1000 genomes]
rs2075563	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2075701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2075702	0.81[ASN][1000 genomes]
rs2242568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2269428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2982580	0.87[ASN][1000 genomes]
rs34467149	1.00[AMR][1000 genomes]
rs3749960	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3749961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3749963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3895064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4711281	1.00[AFR][1000 genomes]
rs4713492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4713502	0.89[ASN][1000 genomes]
rs4713503	0.86[ASN][1000 genomes]
rs4713504	1.00[AFR][1000 genomes]
rs4959020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4959022	1.00[AFR][1000 genomes]
rs4959023	1.00[AFR][1000 genomes]
rs4959082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57967962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58478632	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58912491	1.00[AFR][1000 genomes]
rs59536155	0.89[ASN][1000 genomes]
rs61744970	0.89[ASN][1000 genomes]
rs7383256	1.00[AMR][1000 genomes]
rs9800604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
2	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
3	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
5	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
7	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
9	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
10	nsv601950	chr6:31785438-32492308	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
11	nsv601951	chr6:31785438-32496748	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
12	nsv601955	chr6:31785453-32484368	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
13	nsv601956	chr6:31785453-32492308	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
14	nsv601961	chr6:31868322-32484368	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
15	nsv427751	chr6:31871512-32092843	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
16	nsv428141	chr6:31871512-32092843	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
17	esv2758043	chr6:31871512-32209113	Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
18	esv2759415	chr6:31871512-32209113	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
19	nsv830628	chr6:31887554-31947600	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
20	nsv933250	chr6:31905060-32008005	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
21	nsv934279	chr6:31905060-32013902	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
22	nsv884513	chr6:31922575-32066025	Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
23	nsv884514	chr6:31923052-31958960	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
24	nsv932869	chr6:31924496-32013902	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
25	nsv933913	chr6:31924682-32009282	Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
26	nsv284	chr6:31925739-31996721	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
27	nsv5247	chr6:31925739-32023216	Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
28	nsv884515	chr6:31930805-31946614	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	51 gene(s)	inside rSNPs	diseases
29	nsv884516	chr6:31931673-31946614	Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	51 gene(s)	inside rSNPs	diseases
30	nsv884517	chr6:31931673-32057627	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
31	nsv538190	chr6:31932347-32037290	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
32	nsv884518	chr6:31933518-31946614	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31927400-31938800	Weak transcription	Right Atrium	heart
2	chr6:31927600-31937000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:31927600-31939400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:31927800-31934800	Weak transcription	Fetal Heart	heart
5	chr6:31927800-31935400	Weak transcription	Stomach Mucosa	stomach
6	chr6:31927800-31937000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr6:31927800-31938400	Strong transcription	Lung	lung
8	chr6:31927800-31938600	Strong transcription	NHEK	skin
9	chr6:31928000-31936200	Strong transcription	Stomach Smooth Muscle	stomach
10	chr6:31928000-31936800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:31928000-31937200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:31928000-31937200	Strong transcription	Fetal Brain Female	brain
13	chr6:31928000-31937400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:31928000-31937400	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr6:31928000-31937600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
16	chr6:31928000-31937800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:31928000-31937800	Strong transcription	Brain Cingulate Gyrus	brain
18	chr6:31928000-31937800	Strong transcription	Brain Hippocampus Middle	brain
19	chr6:31928000-31937800	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:31928000-31938000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:31928000-31938000	Strong transcription	Fetal Stomach	stomach
22	chr6:31928000-31938200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:31928000-31938200	Strong transcription	Fetal Intestine Small	intestine
24	chr6:31928000-31938200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr6:31928000-31938200	Strong transcription	Placenta	Placenta
26	chr6:31928000-31938200	Strong transcription	Ovary	ovary
27	chr6:31928000-31938200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr6:31928000-31938400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:31928000-31938400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:31928000-31938400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:31928000-31938400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr6:31928000-31938400	Strong transcription	Fetal Muscle Leg	muscle
33	chr6:31928000-31938600	Strong transcription	Rectal Smooth Muscle	rectum
34	chr6:31928000-31938600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:31928000-31938800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:31928200-31934600	Strong transcription	A549	lung
37	chr6:31928200-31935400	Strong transcription	HSMM	muscle
38	chr6:31928200-31936000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr6:31928200-31936400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:31928200-31937200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:31928200-31937200	Strong transcription	Osteobl	bone
42	chr6:31928200-31937400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:31928200-31937400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:31928200-31937600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr6:31928200-31937600	Strong transcription	NHLF	lung
46	chr6:31928200-31937800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:31928200-31937800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:31928200-31937800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:31928200-31937800	Strong transcription	Brain Angular Gyrus	brain
50	chr6:31928200-31937800	Strong transcription	Brain Substantia Nigra	brain

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