Variant report

Variant	rs2237613
Chromosome Location	chr7:104845253-104845254
allele	C/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	chr7:104845119-104845259	ProgFib	skin:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MLL5-5	chr7:104845047-104845306	NONHSAT122615

Variant related genes	Relation type
SRPK2	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10227302	0.83[EUR][1000 genomes]
rs10238507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10241415	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10266871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs10277120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10281422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10281886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10487150	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs10953468	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs10953470	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10953474	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1121194	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1142	0.90[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.85[YRI][hapmap]
rs1144	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs11760317	0.82[YRI][hapmap]
rs11765899	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11980772	0.82[ASN][1000 genomes]
rs1204056	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs1204058	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1204060	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1204066	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1204077	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs1204078	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1204080	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12334245	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12668040	0.83[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs12668097	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12671047	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12705304	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12705306	0.86[EUR][1000 genomes]
rs12705308	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13226540	0.85[EUR][1000 genomes]
rs13235033	0.94[JPT][hapmap]
rs13238191	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13239067	0.84[EUR][1000 genomes]
rs17721873	0.93[JPT][hapmap]
rs2030776	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2040914	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2057883	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2057884	0.81[CEU][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs2192932	0.90[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap]
rs2237612	0.84[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs2237617	0.81[JPT][hapmap]
rs2240463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299304	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2299308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299319	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34387062	0.82[EUR][1000 genomes]
rs35601145	0.83[EUR][1000 genomes]
rs35757884	0.84[EUR][1000 genomes]
rs3779210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3801278	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801281	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801282	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3801999	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs41562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4496901	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4727621	0.84[EUR][1000 genomes]
rs4730072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730073	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4730080	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4730081	0.84[EUR][1000 genomes]
rs4730082	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs62484712	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6466053	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6466055	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6466056	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6466057	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6466064	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs66599006	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6943183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6948885	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs6950620	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs6962856	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6967587	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7357199	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs7789569	0.85[ASN][1000 genomes]
rs7797912	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs7800928	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7801804	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7806591	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7811681	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs917114	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9640686	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9649275	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS 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 target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
2	chr7:104782800-104845600	Weak transcription	Spleen	Spleen
3	chr7:104822000-104858800	Weak transcription	Gastric	stomach
4	chr7:104823600-104848600	Strong transcription	Dnd41	blood
5	chr7:104827400-104850400	Weak transcription	Aorta	Aorta
6	chr7:104828600-104851000	Weak transcription	Stomach Mucosa	stomach
7	chr7:104828800-104850000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:104830600-104850600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:104831200-104851000	Weak transcription	Pancreas	Pancrea
10	chr7:104832600-104846200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:104833800-104850000	Weak transcription	Fetal Brain Female	brain
12	chr7:104834200-104846000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:104834200-104850000	Weak transcription	Brain Germinal Matrix	brain
14	chr7:104834600-104846800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:104834600-104851000	Weak transcription	Small Intestine	intestine
16	chr7:104836600-104846400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:104837400-104846200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:104838000-104849800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:104838600-104849800	Weak transcription	Fetal Brain Male	brain
20	chr7:104838600-104850400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:104839000-104845400	Weak transcription	Placenta	Placenta
22	chr7:104839000-104846800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:104839000-104849800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:104839400-104858400	Weak transcription	NHLF	lung
25	chr7:104839600-104845600	Weak transcription	Osteobl	bone
26	chr7:104839600-104846200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:104839600-104846400	Weak transcription	NH-A	brain
28	chr7:104839600-104846400	Weak transcription	NHDF-Ad	bronchial
29	chr7:104839600-104850600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:104839600-104857200	Weak transcription	A549	lung
31	chr7:104840000-104850000	Weak transcription	HSMM	muscle
32	chr7:104840600-104849800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr7:104841000-104845400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:104841200-104853400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:104841600-104845400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:104841600-104851200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:104842000-104850400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:104842000-104851000	Weak transcription	Ovary	ovary
39	chr7:104842000-104851000	Weak transcription	HUVEC	blood vessel
40	chr7:104842200-104845600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:104842200-104847800	Enhancers	Brain Cingulate Gyrus	brain
42	chr7:104842200-104865400	Weak transcription	K562	blood
43	chr7:104842400-104846000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:104842400-104847400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:104842400-104847800	Enhancers	Brain Angular Gyrus	brain
46	chr7:104842400-104850000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr7:104842400-104857200	Weak transcription	HMEC	breast
48	chr7:104842600-104846200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:104842800-104845400	Strong transcription	NHEK	skin
50	chr7:104842800-104847200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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