Variant report

Variant	rs6728257
Chromosome Location	chr2:173426286-173426287
allele	A/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	chr2:173426061-173426456	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173420205..173423169-chr2:173425369..173427957,4	MCF-7	breast:
2	chr2:173423971..173427141-chr2:173427438..173431520,4	K562	blood:

Variant related genes	Relation type
ENSG00000225205	TF binding region
ENSG00000199866	TF binding region
ENSG00000225205	Chromatin interaction
ENSG00000152256	Chromatin interaction
ENSG00000199866	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11902846	1.00[EUR][1000 genomes]
rs6719527	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6721300	1.00[EUR][1000 genomes]
rs6745412	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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv3035	chr2:173419058-173463901	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173421400-173436200	Weak transcription	Spleen	Spleen
2	chr2:173421600-173427200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:173421600-173430000	Weak transcription	Gastric	stomach
4	chr2:173421600-173431000	Weak transcription	Aorta	Aorta
5	chr2:173421600-173436000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:173421600-173436000	Weak transcription	Lung	lung
7	chr2:173421600-173453400	Weak transcription	Pancreas	Pancrea
8	chr2:173421800-173428400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:173421800-173429200	Weak transcription	Placenta	Placenta
10	chr2:173421800-173430000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:173421800-173430000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:173421800-173432000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:173421800-173439000	Weak transcription	Psoas Muscle	Psoas
14	chr2:173421800-173443600	Weak transcription	Ovary	ovary
15	chr2:173421800-173465200	Weak transcription	Small Intestine	intestine
16	chr2:173422000-173427000	Weak transcription	HSMM	muscle
17	chr2:173422000-173428000	Weak transcription	NH-A	brain
18	chr2:173422000-173428800	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:173422000-173429400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:173422000-173437600	Weak transcription	A549	lung
21	chr2:173422000-173438600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:173422000-173439000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:173422000-173443600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:173422200-173427000	Weak transcription	HUVEC	blood vessel
25	chr2:173422200-173427000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:173422200-173429200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:173422200-173431000	Weak transcription	Brain Angular Gyrus	brain
28	chr2:173422200-173431600	Weak transcription	Osteobl	bone
29	chr2:173422200-173436200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:173422200-173437000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:173422200-173437000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:173422200-173438600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:173422200-173451000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:173422400-173427200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:173422400-173427600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr2:173422600-173426400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:173422600-173427200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:173422600-173438800	Weak transcription	Brain Substantia Nigra	brain
39	chr2:173422800-173429400	Weak transcription	Adipose Nuclei	Adipose
40	chr2:173422800-173430200	Weak transcription	Right Ventricle	heart
41	chr2:173422800-173430200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:173423000-173430800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:173423000-173431200	Weak transcription	NHLF	lung
44	chr2:173423000-173433800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:173423200-173426800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:173423400-173426400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:173423400-173426600	Weak transcription	Hela-S3	cervix
48	chr2:173423400-173427000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:173423400-173427000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:173423400-173427200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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