Variant report

Variant	rs2344712
Chromosome Location	chr6:166955584-166955585
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11968034	1.00[JPT][hapmap]
rs16899101	1.00[JPT][hapmap]
rs3778410	1.00[JPT][hapmap]
rs3778416	1.00[JPT][hapmap]
rs3799638	1.00[JPT][hapmap]
rs3799642	1.00[JPT][hapmap]
rs3799645	1.00[JPT][hapmap]
rs763187	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886941	chr6:166907173-166996991	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166929600-166955600	Weak transcription	HMEC	breast
2	chr6:166930400-166957800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:166935400-166966400	Weak transcription	NH-A	brain
4	chr6:166938200-166955800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:166941400-166955600	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:166944600-166955600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:166944600-166957200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:166944600-166958600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:166947400-166969400	Weak transcription	Aorta	Aorta
10	chr6:166949800-166955800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:166949800-166955800	Weak transcription	NHLF	lung
12	chr6:166949800-166956800	Weak transcription	Right Ventricle	heart
13	chr6:166949800-166964800	Weak transcription	Fetal Intestine Small	intestine
14	chr6:166950200-166960600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:166950800-166958600	Weak transcription	NHDF-Ad	bronchial
16	chr6:166951600-166955600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:166951800-166959000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr6:166952000-166955800	Weak transcription	HUVEC	blood vessel
19	chr6:166952000-166957000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:166952400-166957200	Weak transcription	Fetal Brain Male	brain
21	chr6:166952400-166969000	Weak transcription	Psoas Muscle	Psoas
22	chr6:166953000-166956200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:166953000-166956400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:166953000-166957800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr6:166953000-166959000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:166953200-166956600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:166953400-166955600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr6:166953400-166955800	Enhancers	Brain Hippocampus Middle	brain
29	chr6:166953400-166957200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:166953400-166957600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr6:166953400-166964600	Weak transcription	Primary T cells from cord blood	blood
32	chr6:166953400-166967400	Weak transcription	Fetal Lung	lung
33	chr6:166954000-166956000	Flanking Active TSS	GM12878-XiMat	blood
34	chr6:166954000-166959000	Enhancers	Fetal Muscle Leg	muscle
35	chr6:166954200-166956000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:166954200-166956000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr6:166954200-166956000	Enhancers	Fetal Thymus	thymus
38	chr6:166954200-166958200	Enhancers	Fetal Muscle Trunk	muscle
39	chr6:166954200-166965000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:166954400-166955800	Flanking Active TSS	HSMM	muscle
41	chr6:166954400-166956000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:166954400-166956000	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr6:166954400-166956200	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr6:166954400-166957800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:166954400-166958800	Weak transcription	Fetal Brain Female	brain
46	chr6:166954400-166962000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:166954600-166955600	Active TSS	Stomach Smooth Muscle	stomach
48	chr6:166954600-166955800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr6:166954600-166955800	Enhancers	Lung	lung
50	chr6:166954600-166955800	Enhancers	Spleen	Spleen

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