Variant report

Variant	rs2274347
Chromosome Location	chr6:34554983-34554984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34552512..34555793-chr6:34557456..34559676,3	K562	blood:
2	chr6:34550788..34556388-chr6:34565460..34570894,5	K562	blood:
3	chr6:34553065..34556672-chr6:34559907..34563488,3	K562	blood:
4	chr6:34546025..34550946-chr6:34551862..34556143,7	K562	blood:
5	chr6:34552512..34555793-chr6:34557456..34559676,4	K562	blood:
6	chr6:34543365..34546387-chr6:34554474..34557693,3	K562	blood:
7	chr6:34553634..34556369-chr6:34563010..34564695,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196114	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2840286	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv516578	chr6:34483015-34561585	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv885792	chr6:34507311-34607958	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1025472	chr6:34509776-34555969	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv1033534	chr6:34516588-34555969	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv823667	chr6:34533015-34592524	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv818410	chr6:34538544-34579431	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
15	esv988873	chr6:34548881-34557080	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34535600-34563200	Weak transcription	A549	lung
2	chr6:34536800-34556600	Weak transcription	Hela-S3	cervix
3	chr6:34538000-34555400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:34542200-34555400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:34544200-34555000	Weak transcription	Pancreas	Pancrea
6	chr6:34546000-34559800	Weak transcription	HSMM	muscle
7	chr6:34546400-34555600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:34547200-34555600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:34547200-34566800	Weak transcription	Aorta	Aorta
10	chr6:34547600-34555400	Weak transcription	Primary B cells from cord blood	blood
11	chr6:34548800-34555400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:34548800-34561400	Weak transcription	Fetal Heart	heart
13	chr6:34549000-34555000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:34549000-34555200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:34549000-34564200	Strong transcription	Fetal Intestine Small	intestine
16	chr6:34549400-34555200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:34549400-34559800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:34549400-34564400	Weak transcription	Brain Substantia Nigra	brain
19	chr6:34549600-34557200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr6:34549800-34564200	Strong transcription	Fetal Stomach	stomach
21	chr6:34550200-34557200	Weak transcription	Fetal Kidney	kidney
22	chr6:34551400-34559000	Strong transcription	Primary T cells from cord blood	blood
23	chr6:34552000-34555200	Weak transcription	Placenta	Placenta
24	chr6:34552400-34556000	Enhancers	Stomach Mucosa	stomach
25	chr6:34552600-34555000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:34552600-34555400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:34552600-34556000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:34552600-34557000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr6:34552600-34558400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:34552800-34555000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:34552800-34555600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:34552800-34555800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:34552800-34558000	Strong transcription	Fetal Intestine Large	intestine
34	chr6:34553000-34555200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr6:34553000-34555800	Genic enhancers	GM12878-XiMat	blood
36	chr6:34553000-34558200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr6:34553000-34558800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr6:34553000-34559600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:34553200-34555000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:34553200-34558600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr6:34553200-34558600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:34553200-34558800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr6:34553200-34559000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr6:34553400-34555600	Weak transcription	K562	blood
45	chr6:34553400-34557200	Weak transcription	Brain Hippocampus Middle	brain
46	chr6:34553400-34558800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr6:34553400-34559200	Strong transcription	HepG2	liver
48	chr6:34553400-34562200	Weak transcription	Small Intestine	intestine
49	chr6:34553400-34570000	Weak transcription	NH-A	brain
50	chr6:34553600-34556000	Weak transcription	Rectal Mucosa Donor 31	rectum

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