Variant report

Variant	rs12538955
Chromosome Location	chr7:102461004-102461005
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102459530..102461153-chr7:102484743..102487140,2	K562	blood:
2	chr7:102459925..102462268-chr7:102466191..102467871,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10257543	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10267275	0.94[ASN][1000 genomes]
rs10435335	0.81[ASN][1000 genomes]
rs10487283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10499952	0.80[EUR][1000 genomes]
rs1100044	0.80[EUR][1000 genomes]
rs11543736	0.84[ASN][1000 genomes]
rs11970869	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11972019	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11972644	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11973870	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11978670	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11978768	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11978799	0.80[EUR][1000 genomes]
rs11980643	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11981980	0.96[EUR][1000 genomes]
rs11983456	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11983521	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12056296	0.80[EUR][1000 genomes]
rs12533386	0.80[EUR][1000 genomes]
rs12540384	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12666764	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12667218	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12668434	0.93[EUR][1000 genomes]
rs12669668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17136090	0.96[EUR][1000 genomes]
rs17136137	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2009503	0.81[EUR][1000 genomes]
rs2159022	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2411056	0.83[EUR][1000 genomes]
rs3779029	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41501847	0.80[EUR][1000 genomes]
rs56894117	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56921864	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57253646	0.99[EUR][1000 genomes]
rs57350619	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57368671	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57545514	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57776797	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58191643	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58814323	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58919995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59278165	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59544295	0.96[EUR][1000 genomes]
rs59709436	0.96[EUR][1000 genomes]
rs60524601	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60599650	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61679881	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6465877	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6465878	0.80[EUR][1000 genomes]
rs6465879	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6942855	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6945369	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6946773	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs6949150	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6951288	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6952186	0.86[AFR][1000 genomes]
rs6953980	0.80[EUR][1000 genomes]
rs6956781	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6957434	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6957771	0.80[EUR][1000 genomes]
rs6967389	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6975388	0.99[EUR][1000 genomes]
rs6975451	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6976005	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6977145	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73406250	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73406284	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73406302	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73408204	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7779121	0.83[AFR][1000 genomes]
rs7779145	0.84[EUR][1000 genomes]
rs7779618	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7780981	0.99[EUR][1000 genomes]
rs7796335	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7800387	0.82[EUR][1000 genomes]
rs7804322	0.83[EUR][1000 genomes]
rs847652	0.80[EUR][1000 genomes]
rs9690210	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[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	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
2	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
3	nsv1025363	chr7:102072448-102471485	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	esv2761100	chr7:102335787-102481978	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv608057	chr7:102440184-102538515	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102416400-102467600	Weak transcription	Brain Anterior Caudate	brain
2	chr7:102421600-102475600	Weak transcription	Fetal Thymus	thymus
3	chr7:102422000-102474800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:102422000-102476000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:102439600-102467400	Weak transcription	Thymus	Thymus
6	chr7:102439800-102463800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:102444400-102463200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:102445600-102467600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:102445600-102469200	Weak transcription	Fetal Brain Male	brain
10	chr7:102445800-102467400	Weak transcription	Lung	lung
11	chr7:102446200-102467400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr7:102447000-102469400	Weak transcription	Brain Angular Gyrus	brain
13	chr7:102447200-102467400	Weak transcription	Primary B cells from cord blood	blood
14	chr7:102447200-102469400	Weak transcription	Fetal Brain Female	brain
15	chr7:102447400-102462600	Weak transcription	Fetal Intestine Large	intestine
16	chr7:102447400-102477200	Weak transcription	Psoas Muscle	Psoas
17	chr7:102447800-102467400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:102447800-102473000	Weak transcription	Placenta	Placenta
19	chr7:102448000-102469200	Weak transcription	Right Ventricle	heart
20	chr7:102448000-102479000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:102448200-102470800	Weak transcription	Small Intestine	intestine
22	chr7:102448400-102471800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr7:102449400-102467400	Weak transcription	Left Ventricle	heart
24	chr7:102449400-102467600	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:102449600-102463200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:102449600-102467400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:102449600-102469400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr7:102450000-102475000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:102450200-102475600	Weak transcription	Esophagus	oesophagus
30	chr7:102452000-102463200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:102452000-102480000	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:102452200-102467400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:102452200-102472800	Weak transcription	HSMMtube	muscle
34	chr7:102452400-102469400	Weak transcription	Adipose Nuclei	Adipose
35	chr7:102453000-102462400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr7:102454000-102467800	Weak transcription	Fetal Kidney	kidney
37	chr7:102454200-102462200	Weak transcription	Primary T cells from cord blood	blood
38	chr7:102454200-102463400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr7:102454200-102469400	Weak transcription	HepG2	liver
40	chr7:102454200-102484600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:102454400-102469600	Weak transcription	Aorta	Aorta
42	chr7:102454400-102475000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:102454600-102461800	Weak transcription	Fetal Lung	lung
44	chr7:102454600-102475000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:102454600-102475600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr7:102454800-102467400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:102454800-102467600	Weak transcription	Fetal Stomach	stomach
48	chr7:102454800-102473200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:102455000-102467600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:102455000-102467800	Weak transcription	HMEC	breast

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