Variant report

Variant	rs59498249
Chromosome Location	chr7:50445893-50445894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50444036..50446492-chr7:50449187..50451850,2	K562	blood:
2	chr7:50439950..50441982-chr7:50444610..50447858,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs55864329	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55928185	0.90[AFR][1000 genomes]
rs56948134	1.00[EUR][1000 genomes]
rs57167849	0.89[AMR][1000 genomes]
rs59828622	0.89[AMR][1000 genomes]
rs73695621	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695635	1.00[EUR][1000 genomes]
rs73695636	1.00[EUR][1000 genomes]
rs73695637	1.00[EUR][1000 genomes]
rs73695664	0.89[AMR][1000 genomes]
rs73695666	0.89[AMR][1000 genomes]
rs7789106	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	nsv522250	chr7:50442726-50454736	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50420000-50461800	Genic enhancers	Primary T cells fromperipheralblood	blood
2	chr7:50420600-50453400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
3	chr7:50428600-50447800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:50430600-50459800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr7:50431200-50460600	Strong transcription	Dnd41	blood
6	chr7:50431400-50472600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:50436800-50448200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr7:50437000-50453600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr7:50437200-50446000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:50437200-50460200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr7:50437400-50450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:50438000-50449800	Genic enhancers	Primary T cells from cord blood	blood
13	chr7:50438600-50453000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:50439400-50446800	Weak transcription	Lung	lung
15	chr7:50439400-50460600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
16	chr7:50439600-50446800	Weak transcription	Esophagus	oesophagus
17	chr7:50440000-50450400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:50440200-50446800	Weak transcription	Gastric	stomach
19	chr7:50440800-50461400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:50441200-50459800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:50441200-50460200	Strong transcription	Thymus	Thymus
22	chr7:50441200-50460400	Strong transcription	Primary hematopoietic stem cells	blood
23	chr7:50441200-50460400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:50441600-50446400	Strong transcription	Primary B cells from cord blood	blood
25	chr7:50441800-50459200	Strong transcription	Fetal Thymus	thymus
26	chr7:50442200-50460200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:50442400-50446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:50442800-50446600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:50443000-50446000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr7:50443000-50446600	Weak transcription	GM12878-XiMat	blood
31	chr7:50443800-50453600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr7:50444000-50446400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:50444000-50448400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr7:50444200-50446000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:50444600-50446000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:50444600-50446400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:50444600-50449400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:50445000-50446400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:50445200-50450200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:50445400-50446400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:50445400-50446600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:50445400-50447600	Weak transcription	Spleen	Spleen
43	chr7:50445400-50461400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:50445600-50446800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr7:50445600-50446800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr7:50445600-50448200	Weak transcription	K562	blood
47	chr7:50445600-50448400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr7:50445800-50446400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr7:50445800-50446600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr7:50445800-50446600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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