Variant report

Variant	rs7802305
Chromosome Location	chr7:128037627-128037628
allele	C/T
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	chr7:128037386-128038067	K562	blood:	n/a	n/a
2	POLR2A	chr7:128033718-128039206	K562	blood:	n/a	n/a
3	POLR2A	chr7:128036785-128039053	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:128036587..128038762-chr7:128050918..128052447,2	MCF-7	breast:
2	chr7:128036870..128039033-chr7:128045766..128047569,2	MCF-7	breast:
3	chr7:128033560..128036202-chr7:128037168..128039895,3	MCF-7	breast:

Variant related genes	Relation type
IMPDH1	TF binding region
ENSG00000106348	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10954184	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11765023	0.90[JPT][hapmap]
rs11765126	0.85[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.85[MEX][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11773251	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11973781	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11977296	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11981766	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11982673	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11983847	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12536006	0.94[ASN][1000 genomes]
rs12706850	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12706851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13221784	0.90[CEU][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13222212	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13227646	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13242340	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13312278	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2076805	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];0.90[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2228075	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2278293	0.81[ASN][1000 genomes]
rs34848853	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35649907	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4566975	0.89[CHD][hapmap]
rs56401515	0.82[AFR][1000 genomes]
rs6975115	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv981576	chr7:128036949-128041507	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7802305	CPA1	cis	parietal	SCAN
rs7802305	ATP6V1F	cis	parietal	SCAN
rs7802305	IMPDH1	cis	Adipose Subcutaneous	GTEx
rs7802305	IMPDH1	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128027800-128042800	Weak transcription	Fetal Brain Male	brain
3	chr7:128028000-128045200	Weak transcription	Small Intestine	intestine
4	chr7:128028400-128044600	Weak transcription	Fetal Heart	heart
5	chr7:128029600-128044400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:128030000-128043800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:128030200-128040000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:128030400-128038400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:128031000-128043800	Strong transcription	Fetal Stomach	stomach
10	chr7:128031200-128038400	Strong transcription	Primary T cells from cord blood	blood
11	chr7:128031200-128039000	Strong transcription	Thymus	Thymus
12	chr7:128031200-128043200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:128031200-128043200	Strong transcription	A549	lung
14	chr7:128031200-128043600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:128031200-128043600	Strong transcription	Lung	lung
16	chr7:128031200-128044200	Strong transcription	Spleen	Spleen
17	chr7:128031400-128041800	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr7:128031400-128043200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:128031400-128043200	Strong transcription	Gastric	stomach
20	chr7:128031400-128043600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr7:128031400-128044000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:128031400-128044200	Strong transcription	Fetal Muscle Leg	muscle
23	chr7:128031600-128038400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr7:128031600-128038600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:128031600-128040800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:128031600-128041400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr7:128031600-128041600	Strong transcription	Brain Germinal Matrix	brain
28	chr7:128031600-128041800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:128031600-128042000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:128031600-128042000	Strong transcription	Right Ventricle	heart
31	chr7:128031600-128042200	Strong transcription	Fetal Brain Female	brain
32	chr7:128031600-128043200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr7:128031600-128043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:128031600-128043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:128031600-128043800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:128031600-128043800	Strong transcription	Adipose Nuclei	Adipose
37	chr7:128031600-128044400	Strong transcription	Fetal Intestine Small	intestine
38	chr7:128031800-128038200	Weak transcription	Stomach Mucosa	stomach
39	chr7:128031800-128041600	Strong transcription	Ovary	ovary
40	chr7:128031800-128041800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr7:128031800-128041800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:128031800-128041800	Strong transcription	Placenta	Placenta
43	chr7:128031800-128042400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:128031800-128043000	Strong transcription	NHLF	lung
45	chr7:128031800-128043400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:128031800-128043400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:128031800-128043600	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr7:128031800-128043600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr7:128031800-128043800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:128032000-128044000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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