Variant report

Variant	rs2304375
Chromosome Location	chr7:56049117-56049118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:56049074-56049283	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:56047807..56050319-chr7:56171893..56174174,2	K562	blood:

Variant related genes	Relation type
GBAS	TF binding region
ENSG00000106153	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10085802	0.85[ASN][1000 genomes]
rs10253539	0.85[ASN][1000 genomes]
rs10253680	0.85[ASN][1000 genomes]
rs12555	0.85[ASN][1000 genomes]
rs13223519	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13229704	0.85[ASN][1000 genomes]
rs13233834	0.85[ASN][1000 genomes]
rs13234504	0.85[ASN][1000 genomes]
rs13240361	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13241531	0.85[ASN][1000 genomes]
rs13247558	0.85[ASN][1000 genomes]
rs17151447	0.85[ASN][1000 genomes]
rs2331184	0.85[ASN][1000 genomes]
rs33922584	0.85[ASN][1000 genomes]
rs34154824	0.85[ASN][1000 genomes]
rs34319969	0.85[ASN][1000 genomes]
rs34334997	0.85[ASN][1000 genomes]
rs34822782	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs34885337	1.00[ASW][hapmap]
rs35007015	0.85[ASN][1000 genomes]
rs35058595	0.85[ASN][1000 genomes]
rs35136814	0.92[ASN][1000 genomes]
rs35347055	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs35506072	0.85[ASN][1000 genomes]
rs35515485	0.85[ASN][1000 genomes]
rs35523043	0.85[ASN][1000 genomes]
rs35581685	0.85[ASN][1000 genomes]
rs35881493	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs36044787	0.85[ASN][1000 genomes]
rs36049923	0.85[ASN][1000 genomes]
rs36148650	0.85[ASN][1000 genomes]
rs3778868	0.85[ASN][1000 genomes]
rs3816089	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4307293	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4947527	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947531	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4947532	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4948087	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4948089	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4948101	0.92[ASN][1000 genomes]
rs71543775	0.92[ASN][1000 genomes]
rs71543776	0.89[ASN][1000 genomes]
rs71543777	0.92[ASN][1000 genomes]
rs73126344	0.85[ASN][1000 genomes]
rs816242	0.82[ASN][1000 genomes]
rs816412	0.85[ASN][1000 genomes]
rs816413	0.85[ASN][1000 genomes]
rs816415	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
9	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic 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 target site	68 gene(s)	inside rSNPs	diseases
11	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv1034826	chr7:55962159-56092835	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv1033225	chr7:55962159-56094540	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS 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	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56033200-56050400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:56033200-56081400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:56033800-56063000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:56033800-56065800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:56039200-56081600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:56039400-56062400	Weak transcription	Stomach Mucosa	stomach
7	chr7:56043800-56049800	Strong transcription	Primary B cells from cord blood	blood
8	chr7:56044000-56053200	Strong transcription	Primary T cells from cord blood	blood
9	chr7:56044600-56050600	Weak transcription	Psoas Muscle	Psoas
10	chr7:56045000-56067400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:56045200-56068200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:56045400-56049800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:56045400-56050000	Strong transcription	Hela-S3	cervix
14	chr7:56045400-56051600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:56045400-56054000	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr7:56045400-56054000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr7:56045400-56055000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:56045400-56057400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:56045400-56057400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:56045400-56057600	Strong transcription	Dnd41	blood
21	chr7:56045400-56059200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:56045400-56067000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr7:56045400-56067000	Strong transcription	Liver	Liver
24	chr7:56045400-56067200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr7:56045400-56067400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:56045600-56049400	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:56045600-56049800	Strong transcription	Aorta	Aorta
28	chr7:56045600-56051200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:56045600-56051600	Strong transcription	HepG2	liver
30	chr7:56045600-56053000	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr7:56045600-56053200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:56045600-56053600	Strong transcription	Primary hematopoietic stem cells	blood
33	chr7:56045600-56053800	Strong transcription	Left Ventricle	heart
34	chr7:56045600-56054000	Strong transcription	Placenta	Placenta
35	chr7:56045600-56054400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:56045600-56054400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr7:56045600-56056400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr7:56045600-56056800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:56045600-56057400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:56045600-56057600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:56045600-56062400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:56045600-56066600	Strong transcription	Fetal Stomach	stomach
43	chr7:56045600-56067400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:56045600-56067400	Strong transcription	Fetal Intestine Large	intestine
45	chr7:56045800-56050000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:56045800-56050600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:56045800-56051600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr7:56045800-56053200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr7:56045800-56053400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:56045800-56053800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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