Variant report

Variant	rs876038
Chromosome Location	chr7:50308527-50308528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50306184..50310421-chr7:50320200..50324356,4	K562	blood:
2	chr7:50301953..50305153-chr7:50308308..50311293,3	K562	blood:
3	chr7:50301953..50306241-chr7:50308308..50311979,4	K562	blood:
4	chr7:50306288..50308049-chr7:50308431..50310072,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1026422	0.94[ASN][1000 genomes]
rs11185602	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11185603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12718257	0.85[ASN][1000 genomes]
rs17552904	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17634369	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1870027	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2219345	0.81[CHB][hapmap]
rs4385425	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4598207	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4917014	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4917015	0.94[ASN][1000 genomes]
rs4917129	0.93[ASN][1000 genomes]
rs55935382	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62445350	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447171	1.00[ASN][1000 genomes]
rs6964608	0.92[ASN][1000 genomes]
rs876036	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs876037	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs876039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50301800-50310000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:50305200-50310400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:50305600-50308600	Flanking Active TSS	Dnd41	blood
4	chr7:50306200-50309400	Flanking Active TSS	GM12878-XiMat	blood
5	chr7:50306800-50314600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr7:50307000-50309400	Enhancers	Duodenum Mucosa	Duodenum
7	chr7:50307000-50310600	Enhancers	Primary hematopoietic stem cells	blood
8	chr7:50307000-50310600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:50307000-50310600	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr7:50307200-50309600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr7:50307200-50310600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:50307200-50314800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr7:50307200-50317600	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:50307400-50310000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr7:50307400-50310000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr7:50307400-50310400	Enhancers	Thymus	Thymus
17	chr7:50307400-50314600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:50307400-50316200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr7:50307600-50308600	Weak transcription	Adipose Nuclei	Adipose
20	chr7:50307600-50310000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:50307600-50310000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:50307600-50310600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr7:50307600-50310600	Enhancers	Fetal Thymus	thymus
24	chr7:50307600-50315600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr7:50307800-50309000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:50307800-50311000	Enhancers	Primary B cells from cord blood	blood
27	chr7:50307800-50314800	Enhancers	Primary T cells from cord blood	blood
28	chr7:50308200-50308600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr7:50308200-50308800	Weak transcription	Spleen	Spleen
30	chr7:50308200-50310800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr7:50308200-50311000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:50308200-50311200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:50308200-50312200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:50308200-50313600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:50308400-50309200	Enhancers	Colonic Mucosa	Colon

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