Variant report

Variant	rs4711514
Chromosome Location	chr6:37758365-37758366
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:37752957..37754928-chr6:37756954..37759189,2	K562	blood:
2	chr6:37758354..37761850-chr6:37786421..37788597,3	K562	blood:
3	chr6:37756866..37759341-chr6:37763585..37765183,2	K562	blood:
4	chr6:37709546..37710466-chr6:37757585..37758878,3	MCF-7	breast:
5	chr6:37757989..37761183-chr6:37784912..37786796,3	MCF-7	breast:
6	chr6:37756505..37762867-chr6:37772774..37778127,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156639	Chromatin interaction
ENSG00000225945	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10485029	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs2055206	0.84[CEU][hapmap]
rs9470706	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37752600-37758600	Weak transcription	Fetal Brain Female	brain
2	chr6:37752600-37758800	Weak transcription	HSMMtube	muscle
3	chr6:37753000-37758400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:37753200-37758800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:37753200-37759000	Weak transcription	Right Atrium	heart
6	chr6:37753400-37758800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:37753400-37758800	Weak transcription	Esophagus	oesophagus
8	chr6:37753800-37758800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:37753800-37758800	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:37754000-37758600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:37754000-37758800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:37755000-37758800	Weak transcription	Fetal Intestine Small	intestine
13	chr6:37755200-37759000	Weak transcription	Fetal Intestine Large	intestine
14	chr6:37755400-37759000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:37755800-37758400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:37755800-37758600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:37755800-37758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:37756000-37758600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:37756000-37758800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:37756200-37758800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:37756400-37758400	Weak transcription	A549	lung
22	chr6:37756400-37758600	Weak transcription	NHDF-Ad	bronchial
23	chr6:37756400-37758600	Weak transcription	NHLF	lung
24	chr6:37756400-37758800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:37756400-37758800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:37756400-37758800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:37756400-37758800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:37756400-37758800	Weak transcription	Placenta	Placenta
29	chr6:37756600-37758600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:37756600-37758600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:37756600-37758600	Weak transcription	HMEC	breast
32	chr6:37756600-37758600	Weak transcription	NHEK	skin
33	chr6:37756600-37758800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:37756600-37758800	Weak transcription	HSMM	muscle
35	chr6:37757000-37758600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr6:37757600-37758600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:37757800-37758800	Weak transcription	NH-A	brain
38	chr6:37758000-37758800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:37758000-37758800	Enhancers	HepG2	liver
40	chr6:37758000-37759600	Enhancers	Fetal Brain Male	brain
41	chr6:37758000-37759800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr6:37758000-37759800	Enhancers	Liver	Liver
43	chr6:37758200-37758600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:37758200-37759000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:37758200-37759600	Enhancers	Ovary	ovary
46	chr6:37758200-37759800	Enhancers	Pancreas	Pancrea
47	chr6:37758200-37760000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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