Variant report

Variant	rs55864329
Chromosome Location	chr7:50453728-50453729
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50449168..50454095-chr7:50455547..50458876,4	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12112451	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12113897	0.90[AMR][1000 genomes]
rs55928185	0.95[AFR][1000 genomes]
rs56948134	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57167849	1.00[AMR][1000 genomes]
rs59498249	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59522145	0.82[AFR][1000 genomes]
rs59828622	1.00[AMR][1000 genomes]
rs60833957	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6978556	0.81[AMR][1000 genomes]
rs73695621	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695635	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695636	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695637	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73695638	0.90[AMR][1000 genomes]
rs73695639	0.90[AMR][1000 genomes]
rs73695640	0.90[AMR][1000 genomes]
rs73695641	0.90[AMR][1000 genomes]
rs73695643	0.90[AMR][1000 genomes]
rs73695661	0.81[AMR][1000 genomes]
rs73695664	1.00[AMR][1000 genomes]
rs73695666	1.00[AMR][1000 genomes]
rs73695667	0.81[AMR][1000 genomes]
rs73695668	0.81[AMR][1000 genomes]
rs73695669	0.81[AMR][1000 genomes]
rs73695670	0.81[AMR][1000 genomes]
rs73695671	0.81[AMR][1000 genomes]
rs73695673	0.81[AMR][1000 genomes]
rs7789106	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[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	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
5	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50420000-50461800	Genic enhancers	Primary T cells fromperipheralblood	blood
2	chr7:50430600-50459800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr7:50431200-50460600	Strong transcription	Dnd41	blood
4	chr7:50431400-50472600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:50437200-50460200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:50439400-50460600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
7	chr7:50440800-50461400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:50441200-50459800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:50441200-50460200	Strong transcription	Thymus	Thymus
10	chr7:50441200-50460400	Strong transcription	Primary hematopoietic stem cells	blood
11	chr7:50441200-50460400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:50441800-50459200	Strong transcription	Fetal Thymus	thymus
13	chr7:50442200-50460200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:50445400-50461400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:50446600-50461400	Weak transcription	Colonic Mucosa	Colon
16	chr7:50447200-50453800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:50447200-50467400	Weak transcription	Esophagus	oesophagus
18	chr7:50447200-50467400	Weak transcription	Gastric	stomach
19	chr7:50448200-50455000	Weak transcription	Lung	lung
20	chr7:50449200-50467400	Weak transcription	Liver	Liver
21	chr7:50449600-50453800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr7:50449800-50459200	Strong transcription	Primary B cells from cord blood	blood
23	chr7:50450200-50453800	Strong transcription	K562	blood
24	chr7:50450400-50460000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:50450600-50455000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:50450600-50455000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:50450800-50455200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:50451000-50455000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:50451400-50455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:50451400-50462600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:50452000-50454600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:50452600-50458400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:50452800-50454600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:50452800-50455600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:50453000-50453800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr7:50453000-50454000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:50453200-50453800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:50453200-50454600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:50453200-50456000	Weak transcription	Spleen	Spleen
40	chr7:50453200-50459000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr7:50453200-50467800	Weak transcription	Pancreas	Pancrea
42	chr7:50453400-50454600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:50453400-50454600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr7:50453600-50454400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr7:50453600-50454600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr7:50453600-50454800	Strong transcription	Primary T cells from cord blood	blood
47	chr7:50453600-50456200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:50453600-50460000	Weak transcription	GM12878-XiMat	blood

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