Variant report

Variant	rs4385425
Chromosome Location	chr7:50307334-50307335
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	chr7:50306184..50310421-chr7:50320200..50324356,4	K562	blood:
2	chr7:50306288..50308049-chr7:50308431..50310072,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10276619	0.81[ASN][1000 genomes]
rs11185602	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11185603	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17552904	0.96[JPT][hapmap]
rs17634369	0.95[JPT][hapmap]
rs1870027	0.83[EUR][1000 genomes]
rs2168589	0.90[AMR][1000 genomes]
rs4598207	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4917014	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55935382	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62445350	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs876036	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs876037	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs876038	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs876039	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1024102	chr7:50195864-50418159	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50301800-50310000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:50305000-50307800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr7:50305200-50310400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:50305400-50307800	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr7:50305600-50307600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
6	chr7:50305600-50307600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr7:50305600-50307600	Flanking Active TSS	Fetal Thymus	thymus
8	chr7:50305600-50308200	Enhancers	Spleen	Spleen
9	chr7:50305600-50308600	Flanking Active TSS	Dnd41	blood
10	chr7:50305800-50307400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr7:50305800-50307400	Enhancers	Colonic Mucosa	Colon
12	chr7:50305800-50307400	Flanking Active TSS	Thymus	Thymus
13	chr7:50305800-50307600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:50306000-50307400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr7:50306000-50307600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:50306200-50307400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:50306200-50307400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:50306200-50307400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr7:50306200-50307800	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr7:50306200-50309400	Flanking Active TSS	GM12878-XiMat	blood
21	chr7:50306400-50307600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:50306400-50307600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr7:50306400-50308200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr7:50306600-50307600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:50306800-50314600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr7:50307000-50307600	Enhancers	K562	blood
27	chr7:50307000-50307800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr7:50307000-50309400	Enhancers	Duodenum Mucosa	Duodenum
29	chr7:50307000-50310600	Enhancers	Primary hematopoietic stem cells	blood
30	chr7:50307000-50310600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:50307000-50310600	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr7:50307200-50307400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:50307200-50307600	Enhancers	Adipose Nuclei	Adipose
34	chr7:50307200-50307600	Enhancers	Fetal Muscle Trunk	muscle
35	chr7:50307200-50309600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr7:50307200-50310600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr7:50307200-50314800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr7:50307200-50317600	Enhancers	Primary B cells from peripheral blood	blood

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