Variant report

Variant	rs4714022
Chromosome Location	chr6:36857946-36857947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36852175..36855710-chr6:36855896..36859725,4	MCF-7	breast:
2	chr6:36856383..36858812-chr6:36892219..36894904,2	K562	blood:
3	chr6:36856253..36859191-chr6:36932885..36935045,2	K562	blood:
4	chr6:36854706..36858515-chr6:36943714..36946707,4	K562	blood:
5	chr6:36857089..36859522-chr6:36861132..36864620,3	K562	blood:

Variant related genes	Relation type
ENSG00000198663	Chromatin interaction
ENSG00000137409	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10456445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10456447	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10456448	0.82[ASN][1000 genomes]
rs10947646	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947648	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11964396	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111266	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12111291	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12191780	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193721	0.82[ASN][1000 genomes]
rs12195012	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12215873	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12524018	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12524649	1.00[ASN][1000 genomes]
rs12525180	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529199	1.00[JPT][hapmap]
rs12529769	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17552561	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272192	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41408445	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4348312	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55928881	0.82[ASN][1000 genomes]
rs56240344	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56302344	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66474948	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72846078	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7745555	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7762601	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[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	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36854200-36860200	Weak transcription	Spleen	Spleen
2	chr6:36854200-36862200	Weak transcription	Lung	lung
3	chr6:36854200-36868000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:36854200-36873600	Weak transcription	Aorta	Aorta
5	chr6:36854200-36881000	Weak transcription	Gastric	stomach
6	chr6:36854200-36887400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:36854400-36858000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:36854400-36860200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:36854400-36868400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:36854400-36893000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr6:36854600-36859800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:36854600-36869600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:36854600-36870000	Weak transcription	Stomach Mucosa	stomach
14	chr6:36854800-36858000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr6:36854800-36858200	Enhancers	Fetal Heart	heart
16	chr6:36854800-36860000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:36854800-36860000	Weak transcription	Fetal Stomach	stomach
18	chr6:36854800-36861400	Weak transcription	Placenta	Placenta
19	chr6:36854800-36866600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:36854800-36868400	Weak transcription	Brain Germinal Matrix	brain
21	chr6:36854800-36870000	Weak transcription	Colonic Mucosa	Colon
22	chr6:36854800-36875200	Weak transcription	Esophagus	oesophagus
23	chr6:36854800-36881000	Weak transcription	A549	lung
24	chr6:36854800-36882000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:36854800-36884600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:36855000-36859800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:36855000-36859800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:36855000-36859800	Weak transcription	Fetal Intestine Small	intestine
29	chr6:36855000-36859800	Weak transcription	Osteobl	bone
30	chr6:36855000-36860000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:36855000-36860000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:36855000-36860000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr6:36855000-36860000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr6:36855000-36862000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr6:36855000-36862200	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:36855000-36862200	Weak transcription	Fetal Intestine Large	intestine
37	chr6:36855000-36862200	Weak transcription	HMEC	breast
38	chr6:36855000-36862200	Weak transcription	HSMM	muscle
39	chr6:36855000-36862200	Weak transcription	HSMMtube	muscle
40	chr6:36855000-36866600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr6:36855000-36866600	Weak transcription	HUVEC	blood vessel
42	chr6:36855000-36866800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:36855000-36866800	Weak transcription	Fetal Kidney	kidney
44	chr6:36855000-36867200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:36855200-36859800	Weak transcription	Fetal Muscle Leg	muscle
46	chr6:36855200-36862000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr6:36855200-36862200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:36855400-36859600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:36855400-36859600	Weak transcription	Fetal Thymus	thymus
50	chr6:36855400-36859600	Weak transcription	Monocytes-CD14+_RO01746	blood

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