Variant report

Variant	rs73346280
Chromosome Location	chr7:50306311-50306312
allele	G/T
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: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12718256	0.95[AFR][1000 genomes]
rs13223169	0.95[AFR][1000 genomes]
rs13230749	0.95[AFR][1000 genomes]
rs34740011	0.95[AFR][1000 genomes]
rs34754739	0.95[AFR][1000 genomes]
rs35220048	0.95[AFR][1000 genomes]
rs4299958	0.95[AFR][1000 genomes]
rs55777009	1.00[ASN][1000 genomes]
rs58554383	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61283652	1.00[ASN][1000 genomes]
rs61339774	0.95[AFR][1000 genomes]
rs6956110	0.95[AFR][1000 genomes]
rs6963387	0.95[AFR][1000 genomes]
rs6978502	1.00[ASN][1000 genomes]
rs73344204	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73344208	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73344210	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73344213	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73344215	0.95[AFR][1000 genomes]
rs73344219	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73346247	0.95[AFR][1000 genomes]
rs73346249	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73346263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73346265	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73346272	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73346275	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73346278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73346294	1.00[AMR][1000 genomes]
rs73698012	1.00[ASN][1000 genomes]
rs7784961	1.00[AMR][1000 genomes]
rs7790034	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50300800-50306400	Enhancers	Primary hematopoietic stem cells	blood
2	chr7:50301000-50306400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:50301800-50310000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:50305000-50306600	Enhancers	Duodenum Mucosa	Duodenum
5	chr7:50305000-50307800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr7:50305200-50310400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:50305400-50307800	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr7:50305600-50306400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:50305600-50306800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:50305600-50307000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:50305600-50307200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:50305600-50307600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr7:50305600-50307600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr7:50305600-50307600	Flanking Active TSS	Fetal Thymus	thymus
15	chr7:50305600-50308200	Enhancers	Spleen	Spleen
16	chr7:50305600-50308600	Flanking Active TSS	Dnd41	blood
17	chr7:50305800-50306600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
18	chr7:50305800-50306600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr7:50305800-50306600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr7:50305800-50306800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr7:50305800-50307000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:50305800-50307400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr7:50305800-50307400	Enhancers	Colonic Mucosa	Colon
24	chr7:50305800-50307400	Flanking Active TSS	Thymus	Thymus
25	chr7:50305800-50307600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:50306000-50306400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:50306000-50306400	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr7:50306000-50306600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:50306000-50307400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr7:50306000-50307600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:50306200-50306400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:50306200-50306600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr7:50306200-50306600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr7:50306200-50306800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr7:50306200-50307000	Flanking Active TSS	K562	blood
36	chr7:50306200-50307200	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr7:50306200-50307400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:50306200-50307400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:50306200-50307400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr7:50306200-50307800	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr7:50306200-50309400	Flanking Active TSS	GM12878-XiMat	blood

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