Variant report

Variant	rs11595187
Chromosome Location	chr10:94351935-94351936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:94350480-94353543	Raji	blood:	n/a	n/a
2	POLR2A	chr10:94351139-94353402	GM19193	blood:	n/a	n/a
3	POLR2A	chr10:94351013-94351966	GM12892	blood:	n/a	n/a
4	GATA3	chr10:94351292-94351965	T-47D	breast:	n/a	n/a
5	POLR2A	chr10:94350866-94353483	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:94350532-94353421	GM12878	blood:	n/a	n/a
7	CREB1	chr10:94351245-94352107	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr10:94350007-94352200	A549	lung:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
9	NFIC	chr10:94350815-94352134	GM12878	blood:	n/a	n/a
10	TEAD4	chr10:94351272-94351981	K562	blood:	n/a	n/a
11	CREB1	chr10:94350947-94352120	HepG2	liver:	n/a	n/a
12	YY1	chr10:94351275-94352081	ECC-1	luminal epithelium:	n/a	chr10:94351524-94351538
13	POLR2A	chr10:94351188-94352019	K562	blood:	n/a	n/a
14	CHD1	chr10:94351205-94352066	GM12878	blood:	n/a	n/a
15	POLR2A	chr10:94351087-94352049	GM12891	blood:	n/a	n/a
16	UBTF	chr10:94351294-94351964	K562	blood:	n/a	n/a
17	POLR2A	chr10:94351135-94353374	GM18505	blood:	n/a	n/a
18	POLR2A	chr10:94350992-94351938	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr10:94351197-94351945	K562	blood:	n/a	n/a
20	STAT5A	chr10:94351038-94352197	GM12878	blood:	n/a	n/a
21	POLR2A	chr10:94350096-94354204	GM12891	blood:	n/a	n/a
22	POLR2A	chr10:94350595-94351993	GM19099	blood:	n/a	n/a
23	POLR2A	chr10:94350405-94354257	PBDE	blood:	n/a	n/a
24	POLR2A	chr10:94351076-94353287	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr10:94351056-94353370	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr10:94350925-94352065	HCT-116	colon:	n/a	n/a
27	POLR2A	chr10:94350750-94353146	HCT-116	colon:	n/a	n/a
28	RCOR1	chr10:94351310-94352026	K562	blood:	n/a	n/a
29	POLR2A	chr10:94351773-94351962	GM12878	blood:	n/a	n/a
30	POLR2A	chr10:94351230-94351945	K562	blood:	n/a	n/a
31	POLR2A	chr10:94350433-94353351	K562	blood:	n/a	n/a
32	MAX	chr10:94350351-94352147	A549	lung:	n/a	chr10:94350784-94350793
33	POLR2A	chr10:94351151-94351949	HepG2	liver:	n/a	n/a
34	POLR2A	chr10:94350371-94353159	GM12878	blood:	n/a	n/a
35	POLR2A	chr10:94350990-94353283	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr10:94351132-94353304	MCF-7	breast:	n/a	n/a
37	FOXM1	chr10:94351098-94351966	GM12878	blood:	n/a	n/a
38	MTA3	chr10:94350511-94353491	GM12878	blood:	n/a	n/a
39	POLR2A	chr10:94350449-94352119	HCT-116	colon:	n/a	n/a
40	MXI1	chr10:94350209-94352051	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr10:94351931-94352269	ProgFib	skin:	n/a	n/a
42	RELA	chr10:94351100-94351991	GM15510	blood:	n/a	n/a
43	GABPA	chr10:94351042-94351988	MCF-7	breast:	n/a	n/a
44	KAP1	chr10:94350296-94352060	HEK293	kidney:	n/a	n/a
45	EP300	chr10:94351197-94351971	GM12878	blood:	n/a	chr10:94351531-94351547
46	POLR2A	chr10:94350634-94353389	MCF-7	breast:	n/a	n/a
47	POLR2A	chr10:94350338-94352101	HUVEC	blood vessel:	n/a	n/a
48	HEY1	chr10:94350422-94353185	HepG2	liver:	n/a	chr10:94352770-94352785 chr10:94351528-94351543 chr10:94351559-94351574
49	TCF12	chr10:94351044-94351979	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr10:94351166-94353360	GM12878	blood:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:94351268..94354735-chr10:94355145..94359396,3	K562	blood:
2	chr10:94330286..94336827-chr10:94349891..94354260,15	K562	blood:
3	chr10:94341343..94347435-chr10:94348651..94352489,6	K562	blood:
4	chr10:94329944..94332046-chr10:94350652..94352961,2	MCF-7	breast:
5	chr10:94349845..94352278-chr10:94364574..94366521,2	K562	blood:
6	chr10:94346330..94348622-chr10:94350152..94352850,4	MCF-7	breast:
7	chr10:94350490..94352733-chr10:94357545..94360225,2	MCF-7	breast:
8	chr10:94351725..94353301-chr10:94589609..94592418,2	K562	blood:
9	chr10:94347817..94350094-chr10:94351075..94352910,3	MCF-7	breast:
10	chr10:94327650..94337583-chr10:94349444..94356782,22	K562	blood:
11	chr10:94351156..94354361-chr10:94606648..94609927,3	MCF-7	breast:
12	chr10:94348631..94351976-chr10:94517080..94521274,3	K562	blood:
13	chr10:94349285..94352035-chr10:94353107..94354647,2	K562	blood:
14	chr10:94349914..94352600-chr10:94405962..94408732,2	MCF-7	breast:
15	chr10:94349533..94356622-chr10:94447410..94453498,11	K562	blood:
16	chr10:94350021..94352596-chr10:94356873..94358972,3	MCF-7	breast:
17	chr10:94332407..94336018-chr10:94349212..94353201,7	MCF-7	breast:
18	chr10:94350588..94352727-chr10:94492538..94494364,2	K562	blood:
19	chr10:94271122..94273311-chr10:94351140..94352702,2	MCF-7	breast:
20	chr10:94351298..94352921-chr10:94510059..94511770,2	K562	blood:
21	chr10:94343007..94345343-chr10:94351332..94352887,2	MCF-7	breast:
22	chr10:94349533..94354628-chr10:94448059..94453493,12	K562	blood:
23	chr10:94332262..94336114-chr10:94349834..94354042,11	MCF-7	breast:
24	chr10:94231625..94235383-chr10:94350163..94352674,3	MCF-7	breast:

No data

Variant related genes	Relation type
KIF11	TF binding region
ENSG00000152804	Chromatin interaction
ENSG00000119912	Chromatin interaction
ENSG00000138190	Chromatin interaction
ENSG00000184111	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10882066	0.80[ASN][1000 genomes]
rs10882078	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10882084	0.89[CHB][hapmap]
rs10882086	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882088	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882093	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11186999	0.80[ASN][1000 genomes]
rs11187037	0.80[ASN][1000 genomes]
rs11187077	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11187079	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11187092	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187108	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11187115	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12218324	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12218329	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12411517	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12411873	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12414433	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12415807	0.80[ASN][1000 genomes]
rs12416180	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17107734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1999763	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1999764	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2275219	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421940	0.85[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs3758503	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3758505	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4646954	0.89[CHB][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4933232	0.80[ASN][1000 genomes]
rs4933728	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4933731	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4933732	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6583820	0.85[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap]
rs7068118	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7068618	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7075073	0.80[ASN][1000 genomes]
rs7075851	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs7079099	0.87[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7089987	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7093437	0.80[ASN][1000 genomes]
rs7097800	0.89[CHB][hapmap]
rs74151674	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7895832	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap]
rs7898114	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7898862	0.80[ASN][1000 genomes]
rs7900584	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7916594	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	40 gene(s)	inside rSNPs	diseases
4	nsv895895	chr10:94304132-94372706	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr10:94350400-94352600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:94350400-94353200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:94350600-94352400	Flanking Active TSS	Dnd41	blood
4	chr10:94350600-94352600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr10:94350600-94353200	Active TSS	Brain Substantia Nigra	brain
6	chr10:94350600-94353200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr10:94350600-94353600	Active TSS	Right Atrium	heart
8	chr10:94350600-94354400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:94350600-94354800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr10:94350600-94355000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr10:94350600-94355200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:94350600-94355400	Active TSS	GM12878-XiMat	blood
13	chr10:94350600-94355600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr10:94350600-94355800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr10:94350800-94352000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr10:94350800-94352000	Active TSS	Brain Cingulate Gyrus	brain
17	chr10:94350800-94352000	Flanking Active TSS	NH-A	brain
18	chr10:94350800-94352600	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr10:94350800-94352600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr10:94350800-94352600	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr10:94350800-94352800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:94350800-94353000	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr10:94350800-94353000	Active TSS	Stomach Smooth Muscle	stomach
24	chr10:94350800-94353400	Active TSS	Psoas Muscle	Psoas
25	chr10:94350800-94353800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr10:94350800-94354000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr10:94350800-94354800	Active TSS	Fetal Brain Female	brain
28	chr10:94350800-94355000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:94350800-94355600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr10:94350800-94355800	Active TSS	Thymus	Thymus
31	chr10:94351000-94352400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr10:94351000-94352600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:94351000-94352600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr10:94351000-94352600	Flanking Active TSS	HUVEC	blood vessel
35	chr10:94351000-94353000	Active TSS	Right Ventricle	heart
36	chr10:94351000-94353000	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr10:94351000-94353200	Active TSS	Brain Angular Gyrus	brain
38	chr10:94351000-94353400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr10:94351000-94353400	Active TSS	Left Ventricle	heart
40	chr10:94351000-94353600	Active TSS	Brain Anterior Caudate	brain
41	chr10:94351000-94354200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr10:94351000-94354200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr10:94351000-94354800	Active TSS	H1 Cell Line	embryonic stem cell
44	chr10:94351000-94354800	Active TSS	HSMM	muscle
45	chr10:94351000-94355000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:94351000-94355200	Active TSS	H9 Cell Line	embryonic stem cell
47	chr10:94351000-94355600	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr10:94351000-94356600	Active TSS	K562	blood
49	chr10:94351200-94352200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr10:94351200-94352200	Active TSS	Liver	Liver

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