Variant report

Variant	rs10011971
Chromosome Location	chr4:110467753-110467754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110463063..110464866-chr4:110466518..110468456,2	MCF-7	breast:
2	chr4:110466638..110469623-chr4:110471525..110474014,2	K562	blood:
3	chr4:110461566..110463825-chr4:110465703..110468687,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10003981	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10005225	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10008457	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10009463	1.00[EUR][1000 genomes]
rs10020652	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10030694	1.00[EUR][1000 genomes]
rs17040433	1.00[EUR][1000 genomes]
rs17040466	1.00[EUR][1000 genomes]
rs17040498	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28412073	1.00[EUR][1000 genomes]
rs28460762	1.00[EUR][1000 genomes]
rs28541279	1.00[EUR][1000 genomes]
rs28595287	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28597954	1.00[EUR][1000 genomes]
rs28663368	1.00[EUR][1000 genomes]
rs28680423	1.00[EUR][1000 genomes]
rs28723468	1.00[EUR][1000 genomes]
rs28829974	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57705376	1.00[EUR][1000 genomes]
rs6533431	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6533432	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6812917	1.00[EUR][1000 genomes]
rs6834714	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6837083	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6838597	1.00[EUR][1000 genomes]
rs6840561	1.00[EUR][1000 genomes]
rs6852062	1.00[EUR][1000 genomes]
rs6854516	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72898791	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7665738	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7667502	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7674196	1.00[EUR][1000 genomes]
rs7677736	1.00[EUR][1000 genomes]
rs7681265	1.00[EUR][1000 genomes]
rs7685647	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7697001	1.00[EUR][1000 genomes]
rs9997563	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv980240	chr4:110467259-110476042	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110393800-110469200	Weak transcription	Stomach Mucosa	stomach
2	chr4:110409400-110467800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr4:110412400-110470600	Strong transcription	Fetal Thymus	thymus
4	chr4:110423400-110480800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:110424800-110468400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:110425200-110468000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:110434800-110469600	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr4:110435000-110468400	Strong transcription	Liver	Liver
9	chr4:110436800-110468000	Strong transcription	HSMM	muscle
10	chr4:110445800-110467800	Strong transcription	Adipose Nuclei	Adipose
11	chr4:110448800-110479600	Weak transcription	Small Intestine	intestine
12	chr4:110448800-110480000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:110449600-110469400	Weak transcription	Pancreas	Pancrea
14	chr4:110452000-110470200	Weak transcription	Esophagus	oesophagus
15	chr4:110452400-110480800	Weak transcription	Right Ventricle	heart
16	chr4:110454000-110480600	Weak transcription	NHLF	lung
17	chr4:110454600-110480200	Weak transcription	A549	lung
18	chr4:110455000-110470800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:110455400-110469400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:110455400-110469800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:110455600-110480600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:110456200-110470800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:110456400-110469000	Weak transcription	HMEC	breast
24	chr4:110456400-110469400	Weak transcription	Brain Angular Gyrus	brain
25	chr4:110456400-110472000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:110456400-110480600	Weak transcription	Brain Substantia Nigra	brain
27	chr4:110456400-110481600	Weak transcription	Fetal Heart	heart
28	chr4:110456600-110469600	Weak transcription	Lung	lung
29	chr4:110457400-110468400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:110457400-110480600	Weak transcription	Right Atrium	heart
31	chr4:110458400-110469000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:110458800-110469600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:110460200-110480800	Weak transcription	Brain Anterior Caudate	brain
34	chr4:110461000-110468600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:110461000-110480600	Weak transcription	HSMMtube	muscle
36	chr4:110461200-110471000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:110461200-110479600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:110461600-110470400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:110462000-110469400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:110462000-110469400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr4:110462000-110478400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:110462400-110474400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:110462600-110469600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr4:110462600-110479600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr4:110462800-110468600	Weak transcription	HUVEC	blood vessel
46	chr4:110462800-110480800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:110463000-110469400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr4:110463200-110468200	Weak transcription	NHEK	skin
49	chr4:110463200-110469200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:110463200-110469200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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