Variant report

Variant	rs62319576
Chromosome Location	chr4:120396928-120396929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120395792..120397416-chr4:120401451..120404061,2	K562	blood:
2	chr4:120221978..120223635-chr4:120393077..120397275,3	K562	blood:

Variant related genes	Relation type
ENSG00000164096	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1045177	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62319577	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv879842	chr4:120244085-120424087	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv427694	chr4:120250511-120501728	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv879843	chr4:120326323-120502461	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv879844	chr4:120341296-120449810	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv879846	chr4:120341296-120491714	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv879845	chr4:120341296-120502461	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv879847	chr4:120371729-120450159	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv964092	chr4:120392750-120412350	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120376400-120471600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:120376600-120397200	Weak transcription	Aorta	Aorta
3	chr4:120376600-120399000	Weak transcription	Stomach Mucosa	stomach
4	chr4:120376600-120401200	Weak transcription	Psoas Muscle	Psoas
5	chr4:120376600-120419200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:120377000-120416000	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:120377200-120397400	Weak transcription	Lung	lung
8	chr4:120377200-120400000	Weak transcription	Esophagus	oesophagus
9	chr4:120377200-120400600	Weak transcription	A549	lung
10	chr4:120377200-120401000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:120377200-120403400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:120377200-120415600	Weak transcription	Brain Substantia Nigra	brain
13	chr4:120377200-120416200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr4:120377200-120419600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:120377200-120433800	Weak transcription	Gastric	stomach
16	chr4:120377400-120397400	Weak transcription	Thymus	Thymus
17	chr4:120377400-120397400	Weak transcription	Hela-S3	cervix
18	chr4:120377400-120397800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:120377400-120398400	Weak transcription	Fetal Intestine Small	intestine
20	chr4:120377400-120399800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:120377400-120400200	Weak transcription	Ovary	ovary
22	chr4:120377400-120400400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:120377400-120400600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:120377400-120400600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:120377400-120401000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:120377400-120403000	Weak transcription	Fetal Brain Female	brain
27	chr4:120377400-120415200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:120377400-120416200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr4:120377400-120439000	Weak transcription	Small Intestine	intestine
30	chr4:120377400-120439000	Weak transcription	Spleen	Spleen
31	chr4:120377600-120397200	Weak transcription	Brain Angular Gyrus	brain
32	chr4:120377600-120400400	Weak transcription	Brain Germinal Matrix	brain
33	chr4:120377600-120401000	Weak transcription	HMEC	breast
34	chr4:120377600-120402200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:120377600-120403000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:120377600-120441000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr4:120377600-120501200	Weak transcription	Pancreas	Pancrea
38	chr4:120377800-120400800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:120384400-120439200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr4:120384600-120397000	Weak transcription	K562	blood
41	chr4:120384600-120400000	Weak transcription	Osteobl	bone
42	chr4:120384600-120416200	Weak transcription	Fetal Brain Male	brain
43	chr4:120385600-120397000	Weak transcription	Brain Anterior Caudate	brain
44	chr4:120385600-120403000	Weak transcription	Fetal Kidney	kidney
45	chr4:120385800-120400400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr4:120387000-120402600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:120387400-120403600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr4:120387600-120400400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:120387800-120401200	Weak transcription	NHLF	lung
50	chr4:120388000-120400200	Weak transcription	Primary B cells from peripheral blood	blood

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