Variant report

Variant	rs7920238
Chromosome Location	chr10:98748452-98748453
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	POLR2A	chr10:98747646-98748743	K562	blood:	n/a	n/a
2	TEAD4	chr10:98748170-98748677	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr10:98748231-98748485	HepG2	liver:	n/a	n/a
4	TEAD4	chr10:98748194-98748597	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:98741127..98743717-chr10:98745929..98748788,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231025	TF binding region

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10437452	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188929	1.00[ASN][1000 genomes]
rs11188937	0.95[YRI][hapmap];0.82[EUR][1000 genomes]
rs11188939	0.85[CEU][hapmap];0.84[YRI][hapmap];0.81[EUR][1000 genomes]
rs11188940	0.82[EUR][1000 genomes]
rs11188947	0.82[EUR][1000 genomes]
rs11188954	0.89[EUR][1000 genomes]
rs11188955	0.89[EUR][1000 genomes]
rs11188956	1.00[CEU][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11188959	0.83[YRI][hapmap];0.89[EUR][1000 genomes]
rs11188967	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11188971	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11188978	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188999	1.00[ASN][1000 genomes]
rs12240946	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12241405	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12241564	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12242330	0.81[EUR][1000 genomes]
rs12243551	1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12244490	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12246067	0.85[CEU][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs12247344	0.86[EUR][1000 genomes]
rs12248349	1.00[ASN][1000 genomes]
rs12249381	0.95[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12249427	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12249891	0.82[EUR][1000 genomes]
rs12250548	1.00[ASN][1000 genomes]
rs12252424	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12252435	0.85[CEU][hapmap];0.84[YRI][hapmap];0.82[EUR][1000 genomes]
rs12254525	1.00[ASN][1000 genomes]
rs12256424	0.82[EUR][1000 genomes]
rs12257413	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12258355	0.89[EUR][1000 genomes]
rs12258469	0.89[EUR][1000 genomes]
rs12259265	0.82[EUR][1000 genomes]
rs12261278	0.82[EUR][1000 genomes]
rs12261881	0.82[EUR][1000 genomes]
rs12262784	1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs12263331	0.89[EUR][1000 genomes]
rs12264014	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264950	1.00[ASN][1000 genomes]
rs12265242	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12265606	1.00[ASN][1000 genomes]
rs12266068	0.82[EUR][1000 genomes]
rs12266185	0.82[EUR][1000 genomes]
rs12267926	0.85[CEU][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs12268216	1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs12268272	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13376965	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17112175	1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs17112190	0.83[YRI][hapmap];0.89[EUR][1000 genomes]
rs2104785	0.82[EUR][1000 genomes]
rs2183449	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28439735	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28505353	1.00[ASN][1000 genomes]
rs28758432	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4394767	0.85[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55855950	1.00[ASN][1000 genomes]
rs56327223	1.00[ASN][1000 genomes]
rs56867696	0.89[EUR][1000 genomes]
rs57501540	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57716318	0.82[EUR][1000 genomes]
rs58270704	1.00[ASN][1000 genomes]
rs58376960	0.87[EUR][1000 genomes]
rs58409956	1.00[ASN][1000 genomes]
rs59751908	0.81[EUR][1000 genomes]
rs59938221	0.86[EUR][1000 genomes]
rs59999388	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60576681	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61492214	0.89[EUR][1000 genomes]
rs6584101	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7071211	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072273	1.00[CEU][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7073150	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7081197	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7082316	0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7082838	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7085822	1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs7085851	0.89[EUR][1000 genomes]
rs7086875	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7090441	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7090690	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7090880	1.00[ASN][1000 genomes]
rs72821721	1.00[ASN][1000 genomes]
rs72821744	1.00[ASN][1000 genomes]
rs72821759	1.00[ASN][1000 genomes]
rs73318637	1.00[ASN][1000 genomes]
rs73318641	1.00[ASN][1000 genomes]
rs73320607	1.00[ASN][1000 genomes]
rs74153734	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7893325	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7894138	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7894418	0.82[EUR][1000 genomes]
rs7895914	1.00[ASN][1000 genomes]
rs7906294	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7910221	0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs7918085	1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs7921193	0.82[EUR][1000 genomes]
rs7921216	0.82[EUR][1000 genomes]
rs7921885	0.87[YRI][hapmap];0.89[EUR][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	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1052931	chr10:98676192-98862301	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1042398	chr10:98691406-98851346	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv831951	chr10:98717103-98761280	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98741200-98758000	Weak transcription	K562	blood
2	chr10:98741600-98750600	Weak transcription	NHEK	skin
3	chr10:98741600-98751400	Weak transcription	Small Intestine	intestine
4	chr10:98742000-98757000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr10:98742200-98750800	Weak transcription	HMEC	breast
6	chr10:98742200-98752200	Weak transcription	Colonic Mucosa	Colon
7	chr10:98742200-98754600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:98742200-98754600	Weak transcription	Right Ventricle	heart
9	chr10:98742200-98754800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr10:98742200-98755000	Weak transcription	Left Ventricle	heart
11	chr10:98742400-98750200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr10:98742400-98750200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:98742400-98751200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:98742400-98751400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:98742400-98752400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr10:98742600-98750800	Weak transcription	A549	lung
17	chr10:98742600-98752600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr10:98742600-98752800	Weak transcription	Gastric	stomach
19	chr10:98742600-98755800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr10:98742600-98756000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:98742600-98756800	Weak transcription	Lung	lung
22	chr10:98743000-98758600	Weak transcription	Spleen	Spleen
23	chr10:98743200-98749200	Weak transcription	HepG2	liver
24	chr10:98743600-98750400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:98743600-98750400	Weak transcription	Fetal Intestine Large	intestine
26	chr10:98743800-98758000	Weak transcription	Fetal Brain Female	brain
27	chr10:98744400-98752200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:98744600-98750400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:98744600-98751000	Weak transcription	Fetal Intestine Small	intestine
30	chr10:98745000-98749000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr10:98745000-98758400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr10:98745200-98756000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr10:98745200-98760400	Weak transcription	Primary T cells from cord blood	blood
34	chr10:98745400-98749600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr10:98745400-98750200	Weak transcription	GM12878-XiMat	blood
36	chr10:98745400-98751400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr10:98745400-98752200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:98745400-98755600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr10:98745400-98756600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr10:98745400-98757600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr10:98746000-98749000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr10:98746000-98750600	Weak transcription	Fetal Muscle Leg	muscle
43	chr10:98746400-98752200	Weak transcription	Thymus	Thymus
44	chr10:98746400-98752600	Weak transcription	Brain Hippocampus Middle	brain
45	chr10:98746400-98755000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr10:98746400-98755600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr10:98746400-98758600	Weak transcription	Esophagus	oesophagus
48	chr10:98746600-98749600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr10:98746600-98752000	Weak transcription	Fetal Thymus	thymus
50	chr10:98746600-98752200	Weak transcription	Primary B cells from peripheral blood	blood

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