Variant report

Variant	rs561819885
Chromosome Location	chr6:31895775-31895776
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr6:31894777-31895993	HepG2	liver:	n/a	n/a
2	TBP	chr6:31895002-31895786	HepG2	liver:	n/a	n/a
3	MAX	chr6:31894786-31896042	HepG2	liver:	n/a	n/a
4	TEAD4	chr6:31894686-31895785	HepG2	liver:	n/a	n/a
5	HEY1	chr6:31894883-31895824	HepG2	liver:	n/a	n/a
6	NFIC	chr6:31894726-31895958	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:31895063-31895777	HepG2	liver:	n/a	n/a
8	FOXA2	chr6:31894614-31895818	HepG2	liver:	n/a	n/a
9	MAX	chr6:31894892-31896085	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:31894892-31895957	HepG2	liver:	n/a	n/a
11	MBD4	chr6:31894884-31895870	HepG2	liver:	n/a	n/a
12	HEY1	chr6:31894940-31895808	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:31895075-31895901	HepG2	liver:	n/a	n/a
14	HDAC2	chr6:31894900-31895833	HepG2	liver:	n/a	chr6:31895684-31895698 chr6:31895664-31895678

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31894637..31897740-chr6:31910021..31912431,3	K562	blood:
2	chr6:31894637..31897073-chr6:31910021..31912431,2	K562	blood:
3	chr6:31894560..31897888-chr6:31924484..31926934,4	K562	blood:
4	chr6:31893919..31897907-chr6:31913762..31916831,4	MCF-7	breast:
5	chr6:31885324..31888930-chr6:31894115..31898580,5	MCF-7	breast:
6	chr6:31894560..31897888-chr6:31924484..31928410,3	K562	blood:

No data

Variant related genes	Relation type
C2	TF binding region
ENSG00000204356	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000204351	Chromatin interaction
ENSG00000221267	Chromatin interaction
ENSG00000243649	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 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	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv508399	chr6:31829474-31902423	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
16	nsv462875	chr6:31838441-31907147	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
17	nsv601960	chr6:31838441-31907147	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
18	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
19	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
20	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
21	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
22	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
23	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
24	nsv884511	chr6:31894818-31903121	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31891400-31896400	Weak transcription	Small Intestine	intestine
2	chr6:31895000-31896400	Active TSS	Liver	Liver
3	chr6:31895200-31896000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:31895200-31896000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:31895200-31896000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:31895200-31896000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:31895200-31896000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:31895200-31896000	Flanking Bivalent TSS/Enh	HepG2	liver
9	chr6:31895200-31896400	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr6:31895200-31896600	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr6:31895200-31896600	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr6:31895400-31895800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:31895400-31895800	Active TSS	Brain Anterior Caudate	brain
14	chr6:31895400-31895800	Flanking Active TSS	Fetal Intestine Small	intestine
15	chr6:31895400-31895800	Enhancers	HSMM	muscle
16	chr6:31895400-31895800	Enhancers	K562	blood
17	chr6:31895400-31896000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:31895400-31896000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:31895400-31896000	Flanking Active TSS	Fetal Intestine Large	intestine
20	chr6:31895400-31896000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr6:31895400-31896000	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr6:31895400-31896000	Active TSS	Rectal Smooth Muscle	rectum
23	chr6:31895400-31896000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
24	chr6:31895400-31896000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr6:31895400-31896600	Active TSS	Colonic Mucosa	Colon
26	chr6:31895600-31895800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:31895600-31895800	Active TSS	Primary monocytes fromperipheralblood	blood
28	chr6:31895600-31895800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:31895600-31895800	Active TSS	Placenta	Placenta
30	chr6:31895600-31896000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:31895600-31896000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:31895600-31896000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
33	chr6:31895600-31896000	Active TSS	Lung	lung
34	chr6:31895600-31896000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
35	chr6:31895600-31896200	Active TSS	Brain Hippocampus Middle	brain
36	chr6:31895600-31896200	Active TSS	Colon Smooth Muscle	Colon
37	chr6:31895600-31896200	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr6:31895600-31896600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:31895600-31897200	Enhancers	Spleen	Spleen

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