Variant report

Variant	rs6700217
Chromosome Location	chr1:9727167-9727168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4488033	0.88[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	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9713200-9744000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:9713200-9747200	Weak transcription	Pancreas	Pancrea
3	chr1:9714000-9739600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:9718200-9734000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:9719000-9729600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:9719600-9729800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:9720000-9731200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:9720200-9729000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:9722400-9734600	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr1:9722600-9731400	Weak transcription	Lung	lung
11	chr1:9723600-9736800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:9724400-9734400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:9724800-9728000	Strong transcription	Primary T cells from cord blood	blood
14	chr1:9724800-9728800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:9725000-9728200	Weak transcription	Fetal Thymus	thymus
16	chr1:9725000-9729000	Weak transcription	Thymus	Thymus
17	chr1:9725600-9727200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr1:9725600-9728000	Weak transcription	Primary B cells from cord blood	blood
19	chr1:9725600-9728000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr1:9725600-9728200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:9725800-9727200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:9725800-9727200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:9725800-9727200	Weak transcription	Dnd41	blood
24	chr1:9725800-9728200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:9725800-9729400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:9726000-9728400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:9726000-9728800	Weak transcription	Spleen	Spleen
28	chr1:9726200-9729600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:9726600-9727200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:9726600-9727200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:9726600-9727200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:9726600-9728800	Strong transcription	GM12878-XiMat	blood
33	chr1:9727000-9727400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:9727000-9727600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:9727000-9728200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr1:9727000-9730600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood

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