Variant report

Variant	rs6723492
Chromosome Location	chr2:173424800-173424801
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	chr2:173423971..173427141-chr2:173427438..173431520,4	K562	blood:
2	chr2:173420097..173422198-chr2:173422510..173426199,4	K562	blood:

Variant related genes	Relation type
ENSG00000152256	Chromatin interaction
ENSG00000225205	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4972842	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173421400-173436200	Weak transcription	Spleen	Spleen
2	chr2:173421600-173426000	Weak transcription	Esophagus	oesophagus
3	chr2:173421600-173427200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:173421600-173430000	Weak transcription	Gastric	stomach
5	chr2:173421600-173431000	Weak transcription	Aorta	Aorta
6	chr2:173421600-173436000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:173421600-173436000	Weak transcription	Lung	lung
8	chr2:173421600-173453400	Weak transcription	Pancreas	Pancrea
9	chr2:173421800-173426000	Weak transcription	HSMMtube	muscle
10	chr2:173421800-173428400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:173421800-173429200	Weak transcription	Placenta	Placenta
12	chr2:173421800-173430000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:173421800-173430000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:173421800-173432000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:173421800-173439000	Weak transcription	Psoas Muscle	Psoas
16	chr2:173421800-173443600	Weak transcription	Ovary	ovary
17	chr2:173421800-173465200	Weak transcription	Small Intestine	intestine
18	chr2:173422000-173427000	Weak transcription	HSMM	muscle
19	chr2:173422000-173428000	Weak transcription	NH-A	brain
20	chr2:173422000-173428800	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:173422000-173429400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:173422000-173437600	Weak transcription	A549	lung
23	chr2:173422000-173438600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:173422000-173439000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:173422000-173443600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:173422200-173425800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:173422200-173426000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:173422200-173426000	Weak transcription	Fetal Lung	lung
29	chr2:173422200-173427000	Weak transcription	HUVEC	blood vessel
30	chr2:173422200-173427000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:173422200-173429200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:173422200-173431000	Weak transcription	Brain Angular Gyrus	brain
33	chr2:173422200-173431600	Weak transcription	Osteobl	bone
34	chr2:173422200-173436200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:173422200-173437000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:173422200-173437000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:173422200-173438600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:173422200-173451000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:173422400-173426000	Weak transcription	Brain Anterior Caudate	brain
40	chr2:173422400-173427200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:173422400-173427600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr2:173422600-173425000	Weak transcription	Fetal Brain Female	brain
43	chr2:173422600-173426400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:173422600-173427200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:173422600-173438800	Weak transcription	Brain Substantia Nigra	brain
46	chr2:173422800-173429400	Weak transcription	Adipose Nuclei	Adipose
47	chr2:173422800-173430200	Weak transcription	Right Ventricle	heart
48	chr2:173422800-173430200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:173423000-173425000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:173423000-173425800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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