Variant report

Variant	rs7797255
Chromosome Location	chr7:50351604-50351605
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	chr7:50253301..50255732-chr7:50349910..50352191,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10269380	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11765436	0.83[ASN][1000 genomes]
rs17732497	0.91[CHB][hapmap]
rs1993444	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4917017	0.91[CHB][hapmap]
rs6421315	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6583437	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6583438	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6583440	0.85[TSI][hapmap]
rs7777365	0.83[AMR][1000 genomes]
rs7782210	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7789913	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791218	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7802443	0.83[AMR][1000 genomes]
rs7804185	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886239	0.95[CHB][hapmap];0.81[CHD][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes];0.87[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50346000-50353000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:50347200-50353600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr7:50347200-50353800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:50347400-50353800	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr7:50347600-50353600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr7:50348400-50353000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:50348600-50354400	Weak transcription	Spleen	Spleen
8	chr7:50348800-50353000	Active TSS	Thymus	Thymus
9	chr7:50349200-50353600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr7:50349200-50354200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:50349600-50354400	Weak transcription	Colonic Mucosa	Colon
12	chr7:50349600-50357600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:50349800-50352000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr7:50349800-50352200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:50349800-50352400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:50350000-50352200	Transcr. at gene 5' and 3'	K562	blood
17	chr7:50350000-50352400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:50350000-50352600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr7:50350000-50353400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:50350200-50352000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:50350200-50353600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr7:50350400-50351800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:50350400-50351800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:50350400-50352000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr7:50350400-50352400	Flanking Active TSS	Dnd41	blood
26	chr7:50350400-50352800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:50350800-50352200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
28	chr7:50351000-50351800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:50351000-50351800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr7:50351000-50351800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:50351200-50353000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr7:50351400-50352200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:50351400-50352600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:50351600-50351800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:50351600-50351800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:50351600-50351800	Enhancers	Duodenum Mucosa	Duodenum
37	chr7:50351600-50352200	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr7:50351600-50352200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:50351600-50352200	Flanking Active TSS	Fetal Thymus	thymus
40	chr7:50351600-50352400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr7:50351600-50352400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr7:50351600-50352600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr7:50351600-50352600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:50351600-50352600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr7:50351600-50353600	Flanking Active TSS	GM12878-XiMat	blood

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