Variant report

Variant	rs17201144
Chromosome Location	chr6:31730568-31730569
allele	A/G
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:3)
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	POLR2A	chr6:31730559-31730852	K562	blood:	n/a	n/a
2	POLR2A	chr6:31730566-31731529	HL-60	blood:	n/a	n/a
3	POLR2A	chr6:31730418-31731600	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr6:31730504-31731015	GM12892	blood:	n/a	n/a
5	POLR2A	chr6:31730517-31731806	GM12892	blood:	n/a	n/a
6	POLR2A	chr6:31730551-31731465	K562	blood:	n/a	n/a
7	POLR2A	chr6:31730545-31731525	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:31730485-31731650	K562	blood:	n/a	n/a
9	POLR2A	chr6:31725701-31732188	K562	blood:	n/a	n/a
10	POLR2A	chr6:31730555-31730952	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr6:31730493-31731783	K562	blood:	n/a	n/a
12	POLR2A	chr6:31730528-31730799	HCT-116	colon:	n/a	n/a
13	POLR2A	chr6:31730514-31731816	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr6:31730452-31731121	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31729872..31732091-chr6:31831679..31833339,2	K562	blood:
2	chr6:31706953..31708752-chr6:31729698..31731457,2	MCF-7	breast:
3	chr6:31706580..31708960-chr6:31728802..31732177,3	MCF-7	breast:

No data

Variant related genes	Relation type
SAPCD1	TF binding region
ENSG00000204410	Chromatin interaction
ENSG00000255152	Chromatin interaction
ENSG00000213719	Chromatin interaction
ENSG00000204385	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13207465	1.00[ASN][1000 genomes]
rs28745897	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34406901	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35604230	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv884418	chr6:31525448-31741078	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
11	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
12	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
13	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription 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	257 gene(s)	inside rSNPs	diseases
14	esv2763547	chr6:31715882-31738478	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
15	nsv884426	chr6:31728102-31800868	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
16	nsv884427	chr6:31728102-31802465	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers 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 target site	152 gene(s)	inside rSNPs	diseases
17	nsv884428	chr6:31728102-31870326	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
18	nsv884429	chr6:31730356-31837066	Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	155 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31708200-31733800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:31708400-31731000	Weak transcription	HSMMtube	muscle
3	chr6:31708400-31731200	Weak transcription	Gastric	stomach
4	chr6:31708400-31731200	Weak transcription	Lung	lung
5	chr6:31708400-31731200	Weak transcription	Right Atrium	heart
6	chr6:31708600-31731200	Weak transcription	Brain Hippocampus Middle	brain
7	chr6:31708600-31732000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:31708600-31734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:31708800-31731200	Weak transcription	Brain Anterior Caudate	brain
10	chr6:31708800-31737400	Weak transcription	Liver	Liver
11	chr6:31709000-31738200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:31709200-31737400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr6:31709600-31737400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:31710000-31731000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:31710600-31731200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:31710800-31731000	Weak transcription	HUVEC	blood vessel
17	chr6:31711200-31731400	Weak transcription	Fetal Kidney	kidney
18	chr6:31715200-31734000	Weak transcription	Esophagus	oesophagus
19	chr6:31715400-31733800	Weak transcription	Ovary	ovary
20	chr6:31715400-31733800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:31715600-31730800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:31715600-31733800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:31716600-31744000	Weak transcription	GM12878-XiMat	blood
24	chr6:31718600-31730800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:31721200-31731000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:31721400-31730800	Weak transcription	NHDF-Ad	bronchial
27	chr6:31721400-31731000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:31721400-31731000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:31721400-31731000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:31721400-31731000	Weak transcription	NH-A	brain
31	chr6:31724600-31733000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr6:31725000-31730600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:31725400-31730800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr6:31725400-31732200	Strong transcription	Dnd41	blood
35	chr6:31725400-31732600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:31725400-31733400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:31725600-31730600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:31725800-31730800	Strong transcription	Fetal Stomach	stomach
39	chr6:31725800-31731200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:31725800-31731400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr6:31725800-31737800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr6:31726000-31730800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr6:31726000-31732400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:31726000-31732400	Strong transcription	Thymus	Thymus
45	chr6:31726200-31730600	Strong transcription	Fetal Muscle Leg	muscle
46	chr6:31726200-31730800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:31726200-31731000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:31726400-31730800	Strong transcription	NHLF	lung
49	chr6:31726600-31730600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:31726800-31730800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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