Variant report

Variant	rs7573866
Chromosome Location	chr2:234276216-234276217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234261878..234265511-chr2:234275799..234279097,3	MCF-7	breast:
2	chr2:234264990..234266555-chr2:234275771..234278254,2	K562	blood:
3	chr2:234260877..234265191-chr2:234275776..234278717,4	K562	blood:

Variant related genes	Relation type
ENSG00000077044	Chromatin interaction
ENSG00000259793	Chromatin interaction
ENSG00000243637	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10153744	0.83[ASN][1000 genomes]
rs1046976	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs11675531	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679008	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384918	0.86[EUR][1000 genomes]
rs13420688	0.86[EUR][1000 genomes]
rs55684040	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55693723	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55804614	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55893802	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55983182	0.83[ASN][1000 genomes]
rs56082182	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56405280	0.95[EUR][1000 genomes]
rs58280122	0.95[EUR][1000 genomes]
rs6431364	0.83[ASN][1000 genomes]
rs6722763	0.85[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs6759246	0.85[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs72978363	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72978374	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72978375	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72980318	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7566221	0.85[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs7576633	0.83[ASN][1000 genomes]
rs7580412	0.85[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs7598771	0.83[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv1820563	chr2:234263212-234282210	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234264400-234287200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:234264600-234290800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:234264600-234307600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:234264800-234289200	Weak transcription	Esophagus	oesophagus
5	chr2:234264800-234292800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:234265000-234283800	Weak transcription	Thymus	Thymus
7	chr2:234265000-234295000	Weak transcription	Osteobl	bone
8	chr2:234265200-234284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:234265200-234295000	Weak transcription	NH-A	brain
10	chr2:234265400-234281600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:234265800-234278200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:234265800-234278200	Weak transcription	Brain Germinal Matrix	brain
13	chr2:234265800-234283800	Weak transcription	Colonic Mucosa	Colon
14	chr2:234265800-234289400	Weak transcription	Hela-S3	cervix
15	chr2:234265800-234293000	Weak transcription	HMEC	breast
16	chr2:234266000-234292400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:234266000-234292600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:234266000-234293000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:234266400-234294000	Weak transcription	Fetal Brain Male	brain
20	chr2:234266600-234277600	Weak transcription	Spleen	Spleen
21	chr2:234266600-234281600	Weak transcription	Fetal Thymus	thymus
22	chr2:234267600-234281600	Weak transcription	Dnd41	blood
23	chr2:234267800-234278400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:234267800-234281600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:234268000-234277400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:234268400-234293400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:234268800-234283400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:234269200-234293400	Weak transcription	Right Atrium	heart
29	chr2:234270000-234277400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:234270000-234287600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:234270000-234322400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:234270200-234281600	Weak transcription	Adipose Nuclei	Adipose
33	chr2:234270200-234284000	Weak transcription	Psoas Muscle	Psoas
34	chr2:234270200-234288800	Weak transcription	Right Ventricle	heart
35	chr2:234270400-234278400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:234270400-234284200	Weak transcription	Fetal Intestine Large	intestine
37	chr2:234271200-234278000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:234272200-234276400	Strong transcription	A549	lung
39	chr2:234272600-234278200	Weak transcription	Ovary	ovary
40	chr2:234272600-234278200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:234272600-234278400	Weak transcription	HSMM	muscle
42	chr2:234272600-234278400	Weak transcription	HSMMtube	muscle
43	chr2:234272600-234280600	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:234272600-234281000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:234272600-234281600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr2:234272600-234282000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:234272800-234276600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:234272800-234277600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:234272800-234278200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:234272800-234278400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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