Variant report

Variant	rs1321849
Chromosome Location	chr6:161693897-161693898
allele	A/G/T
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: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12665209	0.84[ASN][1000 genomes]
rs1321850	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34799296	0.92[EUR][1000 genomes]
rs4708901	0.85[AMR][1000 genomes]
rs6930587	0.82[AMR][1000 genomes];0.97[EUR][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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161666800-161694200	Weak transcription	Aorta	Aorta
2	chr6:161672800-161694200	Weak transcription	Lung	lung
3	chr6:161672800-161694200	Weak transcription	Right Ventricle	heart
4	chr6:161676200-161694000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:161678600-161694200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:161678800-161694000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:161681000-161694200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:161687800-161694000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:161688200-161694200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:161692000-161695600	Active TSS	Brain Cingulate Gyrus	brain
11	chr6:161692200-161695600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:161692600-161694000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:161692600-161694400	Weak transcription	Pancreas	Pancrea
14	chr6:161692600-161694800	Weak transcription	Spleen	Spleen
15	chr6:161692800-161695400	Active TSS	Brain Angular Gyrus	brain
16	chr6:161692800-161695400	Active TSS	Fetal Brain Male	brain
17	chr6:161693000-161694000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:161693000-161694000	Weak transcription	A549	lung
19	chr6:161693000-161694200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr6:161693000-161694200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:161693000-161694400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:161693000-161695400	Active TSS	Brain Anterior Caudate	brain
23	chr6:161693000-161695600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr6:161693200-161694000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr6:161693200-161694000	Enhancers	Primary T cells from cord blood	blood
26	chr6:161693200-161695400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr6:161693200-161695400	Active TSS	Brain Hippocampus Middle	brain
28	chr6:161693200-161696000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:161693400-161694000	Enhancers	Thymus	Thymus
30	chr6:161693400-161694200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr6:161693400-161694400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:161693400-161694600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:161693400-161695400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:161693400-161695400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:161693400-161695400	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr6:161693400-161695400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:161693400-161695400	Active TSS	Brain Germinal Matrix	brain
38	chr6:161693400-161695400	Active TSS	NH-A	brain
39	chr6:161693400-161695600	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr6:161693400-161695600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:161693400-161695600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr6:161693400-161695600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:161693400-161695800	Active TSS	H1 Cell Line	embryonic stem cell
44	chr6:161693400-161696000	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr6:161693600-161694000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr6:161693600-161694000	Flanking Active TSS	NHDF-Ad	bronchial
47	chr6:161693600-161694200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:161693600-161694200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr6:161693600-161694200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:161693600-161694200	Flanking Active TSS	HUVEC	blood vessel

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