Variant report

Variant	rs6721631
Chromosome Location	chr2:191783987-191783988
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:191782720-191784274	A549	lung:	n/a	n/a
2	FOXA2	chr2:191783730-191784234	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191746607..191748877-chr2:191782340..191784641,2	MCF-7	breast:

Variant related genes	Relation type
GLS	TF binding region
ENSG00000235852	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16832940	1.00[EUR][1000 genomes]
rs16833146	1.00[EUR][1000 genomes]
rs3024863	1.00[EUR][1000 genomes]
rs3024881	1.00[EUR][1000 genomes]
rs41363648	1.00[EUR][1000 genomes]
rs41381545	1.00[EUR][1000 genomes]
rs41383548	1.00[EUR][1000 genomes]
rs41390345	1.00[EUR][1000 genomes]
rs41429347	1.00[EUR][1000 genomes]
rs41446247	1.00[EUR][1000 genomes]
rs41457850	1.00[EUR][1000 genomes]
rs41463952	1.00[EUR][1000 genomes]
rs41508653	1.00[EUR][1000 genomes]
rs45581732	1.00[EUR][1000 genomes]
rs45582434	1.00[EUR][1000 genomes]
rs45625838	1.00[EUR][1000 genomes]
rs56722217	1.00[EUR][1000 genomes]
rs57478729	1.00[EUR][1000 genomes]
rs58224506	1.00[EUR][1000 genomes]
rs58801716	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60491063	1.00[EUR][1000 genomes]
rs60582710	1.00[EUR][1000 genomes]
rs61276563	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6712504	1.00[EUR][1000 genomes]
rs73043470	1.00[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	nsv584064	chr2:191644537-191789907	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv584065	chr2:191644537-191875901	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv999391	chr2:191749035-191921931	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 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	chr2:191747000-191812000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:191747800-191787400	Weak transcription	Colonic Mucosa	Colon
3	chr2:191748000-191785800	Weak transcription	Liver	Liver
4	chr2:191748200-191787600	Weak transcription	Psoas Muscle	Psoas
5	chr2:191748200-191789200	Weak transcription	Fetal Stomach	stomach
6	chr2:191748200-191794800	Weak transcription	Right Ventricle	heart
7	chr2:191748200-191796800	Weak transcription	Esophagus	oesophagus
8	chr2:191749200-191785800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:191749200-191794800	Weak transcription	Brain Germinal Matrix	brain
10	chr2:191749600-191787000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:191750200-191787200	Weak transcription	Brain Angular Gyrus	brain
12	chr2:191751000-191786800	Weak transcription	Ovary	ovary
13	chr2:191751000-191794800	Weak transcription	Pancreas	Pancrea
14	chr2:191754600-191787000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:191754600-191796200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:191754800-191786800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:191755000-191803200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:191758000-191793600	Weak transcription	Fetal Brain Male	brain
19	chr2:191758200-191786400	Weak transcription	Placenta	Placenta
20	chr2:191759400-191813400	Weak transcription	Aorta	Aorta
21	chr2:191759600-191800600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:191760000-191797200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:191760800-191786400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:191761000-191805200	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:191761200-191786400	Weak transcription	Brain Anterior Caudate	brain
26	chr2:191761600-191785800	Weak transcription	Fetal Brain Female	brain
27	chr2:191761600-191787000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:191761800-191785800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:191761800-191788600	Weak transcription	Stomach Mucosa	stomach
30	chr2:191762000-191794200	Weak transcription	Lung	lung
31	chr2:191764800-191784800	Strong transcription	Primary B cells from cord blood	blood
32	chr2:191764800-191786800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:191764800-191797800	Strong transcription	Dnd41	blood
34	chr2:191766400-191803400	Weak transcription	Hela-S3	cervix
35	chr2:191767200-191787000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:191767200-191795800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:191767600-191789400	Weak transcription	Thymus	Thymus
38	chr2:191767800-191799800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr2:191769000-191794600	Weak transcription	Small Intestine	intestine
40	chr2:191769600-191786000	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:191769600-191787600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:191770200-191787000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:191771000-191785800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:191772200-191797400	Weak transcription	Gastric	stomach
45	chr2:191772200-191797800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:191772800-191786600	Weak transcription	Left Ventricle	heart
47	chr2:191774800-191785800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:191774800-191787000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:191774800-191789400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:191774800-191793200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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