Variant report

Variant	rs11163911
Chromosome Location	chr1:84639626-84639627
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	RAD21	chr1:84639558-84640584	HCT-116	colon:	n/a	n/a
2	CEBPB	chr1:84639591-84640709	HCT-116	colon:	n/a	n/a
3	JUND	chr1:84639592-84640598	HCT-116	colon:	n/a	chr1:84640130-84640141
4	ELF1	chr1:84639616-84640543	HCT-116	colon:	n/a	n/a
5	TEAD4	chr1:84639597-84640419	HCT-116	colon:	n/a	n/a
6	POLR2A	chr1:84639582-84640498	HCT-116	colon:	n/a	n/a
7	GATA2	chr1:84639623-84640288	HUVEC	blood vessel:	n/a	chr1:84639992-84640006
8	SP1	chr1:84639518-84640682	HCT-116	colon:	n/a	n/a
9	SIN3AK20	chr1:84639613-84640548	HCT-116	colon:	n/a	n/a
10	EP300	chr1:84639621-84640540	A549	lung:	n/a	n/a
11	CBX3	chr1:84639583-84640587	HCT-116	colon:	n/a	n/a
12	MAX	chr1:84639474-84640525	HCT-116	colon:	n/a	n/a
13	FOSL1	chr1:84639578-84640656	HCT-116	colon:	n/a	n/a
14	TCF12	chr1:84639587-84640517	SK-N-SH	brain:	n/a	chr1:84640318-84640325
15	JUND	chr1:84639576-84640523	HCT-116	colon:	n/a	chr1:84640130-84640141
16	JUND	chr1:84639590-84640514	SK-N-SH	brain:	n/a	chr1:84640130-84640141
17	NFIC	chr1:84639621-84640218	SK-N-SH	brain:	n/a	n/a
18	SP1	chr1:84639607-84640678	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84639020..84640539-chr1:84647151..84649519,2	MCF-7	breast:
2	chr1:84639501..84640001-chr11:32381239..32382124,2	MCF-7	breast:

Variant related genes	Relation type
PRKACB	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1021490	1.00[CEU][hapmap];0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1057738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10782824	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10874427	0.87[JPT][hapmap]
rs10874428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10874431	0.92[CEU][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10874432	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11163903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11163905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11163906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11163907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11163908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11163913	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12057561	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12064926	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12094426	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12118723	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128892	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12132002	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs12132212	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12562031	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12565896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12723299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12748859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12750691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12756529	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12759624	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12760594	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1402694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1472243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1521518	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565823	1.00[CEU][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1874070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2037454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2037455	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2134646	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2134647	1.00[CEU][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2134648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2134649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2174186	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2250806	0.91[JPT][hapmap]
rs3768258	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4907194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6576960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6576961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6576962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576963	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658591	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6661492	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6695305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6695851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6699600	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6701486	0.91[JPT][hapmap]
rs7512288	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7515264	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7515976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7532712	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7547892	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs903263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs955492	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970318	0.88[CEU][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][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	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv871731	chr1:84597396-84658591	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv871656	chr1:84601048-84693671	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv997601	chr1:84609346-84672859	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1005225	chr1:84609871-84667950	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1002537	chr1:84611207-84658450	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv999772	chr1:84611207-84667218	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1013911	chr1:84619164-84667950	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv871375	chr1:84622793-84678418	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv871643	chr1:84628655-84705481	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv871538	chr1:84633116-84717983	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	nsv1011105	chr1:84638386-84674276	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84624000-84651800	Weak transcription	Thymus	Thymus
2	chr1:84629200-84654000	Weak transcription	Spleen	Spleen
3	chr1:84629400-84644400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:84630600-84639800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:84630600-84640400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:84630800-84648200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:84632600-84647800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:84632800-84647400	Weak transcription	Dnd41	blood
9	chr1:84633000-84648400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:84633000-84649600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:84634000-84647800	Weak transcription	Primary B cells from cord blood	blood
12	chr1:84634000-84648200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:84634800-84649400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:84634800-84651400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:84634800-84651800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:84635000-84656400	Weak transcription	Fetal Heart	heart
17	chr1:84636000-84639800	Weak transcription	Osteobl	bone
18	chr1:84636200-84639800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:84636400-84639800	Weak transcription	Small Intestine	intestine
20	chr1:84636400-84643000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:84636400-84652400	Weak transcription	Fetal Brain Female	brain
22	chr1:84636800-84640400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr1:84637400-84640400	Enhancers	Primary T cells from cord blood	blood
24	chr1:84638000-84640000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:84638200-84648200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:84638600-84640200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:84638600-84640400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:84638800-84639800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:84639000-84639800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr1:84639000-84640400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:84639200-84640000	Enhancers	Fetal Brain Male	brain
32	chr1:84639200-84640200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:84639200-84641200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:84639400-84640000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr1:84639400-84640400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:84639600-84639800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:84639600-84639800	Active TSS	Brain Angular Gyrus	brain
38	chr1:84639600-84639800	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr1:84639600-84639800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr1:84639600-84639800	Flanking Active TSS	A549	lung
41	chr1:84639600-84639800	Enhancers	HMEC	breast
42	chr1:84639600-84640000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr1:84639600-84640000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:84639600-84640000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:84639600-84640000	Active TSS	Brain Hippocampus Middle	brain
46	chr1:84639600-84640200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:84639600-84640200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr1:84639600-84640200	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr1:84639600-84640200	Active TSS	Brain Substantia Nigra	brain
50	chr1:84639600-84640200	Enhancers	Placenta Amnion	Placenta Amnion

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