Variant report

Variant	rs4972842
Chromosome Location	chr2:173429033-173429034
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173423971..173427141-chr2:173427438..173431520,4	K562	blood:
2	chr2:173419480..173425471-chr2:173426655..173429641,7	K562	blood:
3	chr2:173428468..173430914-chr2:173433348..173436026,2	K562	blood:
4	chr2:173427712..173430423-chr2:173430823..173432448,2	K562	blood:

Variant related genes	Relation type
ENSG00000225205	Chromatin interaction
ENSG00000152256	Chromatin interaction
ENSG00000199866	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12475825	1.00[ASN][1000 genomes]
rs12988039	1.00[ASN][1000 genomes]
rs12995721	1.00[ASN][1000 genomes]
rs13018866	1.00[ASN][1000 genomes]
rs13028638	1.00[ASN][1000 genomes]
rs2357407	1.00[ASN][1000 genomes]
rs34097932	1.00[ASN][1000 genomes]
rs34098459	1.00[ASN][1000 genomes]
rs34484409	1.00[ASN][1000 genomes]
rs34606783	1.00[ASN][1000 genomes]
rs35021798	1.00[ASN][1000 genomes]
rs35086654	1.00[ASN][1000 genomes]
rs35530693	1.00[ASN][1000 genomes]
rs6723492	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71415299	1.00[ASN][1000 genomes]
rs71415300	1.00[ASN][1000 genomes]
rs71417407	1.00[ASN][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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173421400-173436200	Weak transcription	Spleen	Spleen
2	chr2:173421600-173430000	Weak transcription	Gastric	stomach
3	chr2:173421600-173431000	Weak transcription	Aorta	Aorta
4	chr2:173421600-173436000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:173421600-173436000	Weak transcription	Lung	lung
6	chr2:173421600-173453400	Weak transcription	Pancreas	Pancrea
7	chr2:173421800-173429200	Weak transcription	Placenta	Placenta
8	chr2:173421800-173430000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:173421800-173430000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:173421800-173432000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:173421800-173439000	Weak transcription	Psoas Muscle	Psoas
12	chr2:173421800-173443600	Weak transcription	Ovary	ovary
13	chr2:173421800-173465200	Weak transcription	Small Intestine	intestine
14	chr2:173422000-173429400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:173422000-173437600	Weak transcription	A549	lung
16	chr2:173422000-173438600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:173422000-173439000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:173422000-173443600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:173422200-173429200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:173422200-173431000	Weak transcription	Brain Angular Gyrus	brain
21	chr2:173422200-173431600	Weak transcription	Osteobl	bone
22	chr2:173422200-173436200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:173422200-173437000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:173422200-173437000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:173422200-173438600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:173422200-173451000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:173422600-173438800	Weak transcription	Brain Substantia Nigra	brain
28	chr2:173422800-173429400	Weak transcription	Adipose Nuclei	Adipose
29	chr2:173422800-173430200	Weak transcription	Right Ventricle	heart
30	chr2:173422800-173430200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:173423000-173430800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:173423000-173431200	Weak transcription	NHLF	lung
33	chr2:173423000-173433800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:173423400-173430000	Weak transcription	Fetal Intestine Large	intestine
35	chr2:173423400-173431800	Weak transcription	NHDF-Ad	bronchial
36	chr2:173423400-173438600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr2:173423400-173441400	Weak transcription	Fetal Kidney	kidney
38	chr2:173423400-173451000	Weak transcription	Colonic Mucosa	Colon
39	chr2:173423600-173429200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:173423600-173433400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:173423600-173436800	Strong transcription	Dnd41	blood
42	chr2:173423600-173438600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:173423600-173439600	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:173423600-173443600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:173423800-173429800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:173424400-173439400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:173424600-173440200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:173424600-173447800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:173425000-173438600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr2:173425000-173438800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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