Variant report

Variant	rs6947435
Chromosome Location	chr7:102032718-102032719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:102032152-102033010	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101924860..101932400-chr7:102029531..102038487,21	MCF-7	breast:
2	chr7:102024593..102027310-chr7:102030143..102032839,2	K562	blood:
3	chr7:102032593..102034411-chr7:102036972..102038643,2	K562	blood:
4	chr7:101922851..101924594-chr7:102031400..102033996,3	MCF-7	breast:
5	chr7:102024593..102028556-chr7:102030143..102033068,3	K562	blood:
6	chr7:101928392..101931417-chr7:102030110..102033868,6	MCF-7	breast:
7	chr7:102030492..102033130-chr7:102034799..102036690,3	K562	blood:
8	chr15:66161321..66162149-chr7:102032286..102032786,2	NB4	blood:

No data

Variant related genes	Relation type
PRKRIP1	TF binding region
ENSG00000103769	Chromatin interaction
ENSG00000160999	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10225683	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10226565	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10233236	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10233461	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10235407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10237343	0.85[CEU][hapmap];0.85[GIH][hapmap];0.83[TSI][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10239657	0.90[EUR][1000 genomes]
rs10243209	0.85[CEU][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10246324	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10249217	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10249222	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10249581	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10255036	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10268289	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10268970	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10276094	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10277996	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10278274	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1131384	0.85[GIH][hapmap]
rs11982980	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11983129	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17135197	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1983476	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1997164	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2103229	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2410990	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2411005	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28427402	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28539797	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28879187	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4481505	0.85[GIH][hapmap]
rs4729789	0.85[GIH][hapmap]
rs56295031	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6465859	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6951185	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6953087	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6958795	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6968325	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6970496	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6974177	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7384178	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7385200	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7787493	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic 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	61 gene(s)	inside rSNPs	diseases
3	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
10	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking 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	76 gene(s)	inside rSNPs	diseases
11	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
12	esv1818954	chr7:101957513-102328097	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv1829377	chr7:101970299-102330884	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv831083	chr7:101981005-102295869	Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	esv1806297	chr7:101981544-102330884	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	esv1810415	chr7:101993063-102375950	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	esv1811751	chr7:101993063-102375950	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	esv1829118	chr7:101993063-102375950	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers 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 miRNA target site	46 gene(s)	inside rSNPs	diseases
20	esv1833155	chr7:101993063-102375950	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6947435	PRKRIP1	cis	multi-tissue	Pritchard
rs6947435	PMS2L3	trans	multi-tissue	Pritchard
rs6947435	C7orf19	cis	multi-tissue	Pritchard
rs6947435	POLR2J	cis	multi-tissue	Pritchard
rs6947435	ORAI2	cis	Whole Blood	GTEx
rs6947435	ATXN7L1	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102005000-102036200	Weak transcription	Aorta	Aorta
2	chr7:102005000-102036200	Weak transcription	Small Intestine	intestine
3	chr7:102005200-102036000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:102005200-102036000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:102005400-102036000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:102005400-102036200	Weak transcription	Brain Angular Gyrus	brain
7	chr7:102005400-102036200	Weak transcription	Psoas Muscle	Psoas
8	chr7:102012800-102034600	Strong transcription	Fetal Stomach	stomach
9	chr7:102013600-102035800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:102015800-102036000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:102017400-102036200	Weak transcription	Right Atrium	heart
12	chr7:102018400-102035800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:102018800-102032800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:102018800-102036000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:102018800-102036000	Weak transcription	Colonic Mucosa	Colon
16	chr7:102018800-102036200	Weak transcription	Esophagus	oesophagus
17	chr7:102019000-102036200	Weak transcription	Gastric	stomach
18	chr7:102020600-102035800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:102021000-102035600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:102021000-102035800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:102021000-102036000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:102021600-102036000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:102022400-102035800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:102022400-102035800	Weak transcription	HUVEC	blood vessel
25	chr7:102022400-102036000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:102022400-102036000	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:102022400-102036000	Weak transcription	NHDF-Ad	bronchial
28	chr7:102022600-102035800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:102022600-102036000	Weak transcription	Fetal Brain Male	brain
30	chr7:102023000-102036000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:102024400-102035800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr7:102024400-102036000	Weak transcription	Fetal Kidney	kidney
33	chr7:102024400-102036200	Weak transcription	Right Ventricle	heart
34	chr7:102024600-102035800	Weak transcription	Fetal Brain Female	brain
35	chr7:102024600-102036000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:102025000-102036000	Weak transcription	Stomach Mucosa	stomach
37	chr7:102025000-102036200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr7:102025200-102036200	Weak transcription	Spleen	Spleen
39	chr7:102026200-102034800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:102026600-102036000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr7:102027800-102032800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:102027800-102035600	Weak transcription	Primary B cells from cord blood	blood
43	chr7:102027800-102036000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:102027800-102036000	Weak transcription	Adipose Nuclei	Adipose
45	chr7:102027800-102036000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr7:102027800-102036000	Weak transcription	HMEC	breast
47	chr7:102028000-102035200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:102028000-102036200	Weak transcription	Ovary	ovary
49	chr7:102028200-102036000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:102028600-102036000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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