Variant report

Variant	rs6914451
Chromosome Location	chr6:161694612-161694613
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161411809..161413437-chr6:161693885..161696604,2	K562	blood:

Variant related genes	Relation type
ENSG00000085511	Chromatin interaction
ENSG00000272841	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16892376	0.92[ASN][1000 genomes]
rs34784502	0.92[ASN][1000 genomes]
rs3757033	0.92[ASN][1000 genomes]
rs3757038	0.92[ASN][1000 genomes]
rs3798950	0.92[ASN][1000 genomes]
rs3798953	0.90[ASN][1000 genomes]
rs3798956	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55977455	0.92[ASN][1000 genomes]
rs62437578	0.92[ASN][1000 genomes]
rs62437580	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62437582	0.88[ASN][1000 genomes]
rs9458175	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9458179	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv949397	chr6:161592100-161812932	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2752091	chr6:161592100-161855785	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1029727	chr6:161607680-161814295	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1030623	chr6:161611170-161796985	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv538494	chr6:161611170-161796985	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv886818	chr6:161629323-161723705	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv481931	chr6:161647026-161961906	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv533149	chr6:161653240-161769727	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv1031234	chr6:161676768-162250726	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv869611	chr6:161690974-161817564	Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161692000-161695600	Active TSS	Brain Cingulate Gyrus	brain
2	chr6:161692200-161695600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:161692600-161694800	Weak transcription	Spleen	Spleen
4	chr6:161692800-161695400	Active TSS	Brain Angular Gyrus	brain
5	chr6:161692800-161695400	Active TSS	Fetal Brain Male	brain
6	chr6:161693000-161695400	Active TSS	Brain Anterior Caudate	brain
7	chr6:161693000-161695600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr6:161693200-161695400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr6:161693200-161695400	Active TSS	Brain Hippocampus Middle	brain
10	chr6:161693200-161696000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:161693400-161695400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:161693400-161695400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:161693400-161695400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr6:161693400-161695400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:161693400-161695400	Active TSS	Brain Germinal Matrix	brain
16	chr6:161693400-161695400	Active TSS	NH-A	brain
17	chr6:161693400-161695600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr6:161693400-161695600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:161693400-161695600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr6:161693400-161695600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:161693400-161695800	Active TSS	H1 Cell Line	embryonic stem cell
22	chr6:161693400-161696000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:161693600-161695400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:161693600-161695400	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr6:161693600-161695400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:161693600-161695400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr6:161693600-161695400	Active TSS	NHLF	lung
28	chr6:161693600-161695600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:161693600-161695600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr6:161693600-161695600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:161693600-161695600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:161693600-161695600	Active TSS	Fetal Kidney	kidney
33	chr6:161693600-161695800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:161693600-161695800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:161693600-161695800	Active TSS	Fetal Brain Female	brain
36	chr6:161693600-161696000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr6:161693800-161695200	Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr6:161693800-161695200	Active TSS	Hela-S3	cervix
39	chr6:161693800-161695400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr6:161693800-161695400	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr6:161693800-161695400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:161693800-161695400	Active TSS	Fetal Intestine Small	intestine
43	chr6:161693800-161695400	Active TSS	Rectal Smooth Muscle	rectum
44	chr6:161693800-161695400	Active TSS	HSMM	muscle
45	chr6:161693800-161695600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:161693800-161695600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:161693800-161695600	Active TSS	Placenta Amnion	Placenta Amnion
48	chr6:161693800-161695800	Active TSS	Colonic Mucosa	Colon
49	chr6:161693800-161695800	Active TSS	Fetal Muscle Trunk	muscle
50	chr6:161693800-161695800	Active TSS	Rectal Mucosa Donor 29	rectum

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