Variant report

Variant	rs34646870
Chromosome Location	chr1:171404017-171404018
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	chr1:171404013..171405651-chr1:171411065..171412627,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10798391	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10912970	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10912971	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10912984	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10912990	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10912991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809022	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12025678	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12026785	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12028255	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12030378	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12031098	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12032556	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12033310	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12044181	0.80[EUR][1000 genomes]
rs12564075	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12749160	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2143934	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2179880	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2421812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2901543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34038212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34350295	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34643775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35025080	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35247356	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35680678	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7418672	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7418675	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8179347	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8179425	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv470745	chr1:171381746-171409514	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv465628	chr1:171381746-171409515	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv548189	chr1:171381746-171409515	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171398800-171408400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:171401200-171407600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:171402200-171404200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:171402600-171404800	Enhancers	Osteobl	bone
5	chr1:171402800-171404200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:171402800-171404200	Enhancers	NHEK	skin
7	chr1:171402800-171405600	Enhancers	NHLF	lung
8	chr1:171403000-171404800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:171403000-171405200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:171403200-171404200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:171403200-171404400	Enhancers	Stomach Mucosa	stomach
12	chr1:171403200-171404800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:171403400-171404600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr1:171403400-171405200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:171403600-171404400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:171403600-171404800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr1:171403800-171404200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:171403800-171404400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr1:171403800-171404600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:171403800-171404600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:171403800-171404600	Enhancers	Fetal Muscle Leg	muscle
22	chr1:171403800-171404800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:171403800-171404800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:171403800-171404800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:171403800-171404800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:171403800-171404800	Enhancers	Dnd41	blood
27	chr1:171403800-171404800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr1:171403800-171405000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:171404000-171404200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr1:171404000-171404200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr1:171404000-171404200	Enhancers	HUVEC	blood vessel
32	chr1:171404000-171404400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:171404000-171404400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr1:171404000-171404400	Flanking Active TSS	A549	lung
35	chr1:171404000-171404600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:171404000-171404600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:171404000-171404600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:171404000-171404600	Flanking Active TSS	Hela-S3	cervix
39	chr1:171404000-171404600	Flanking Active TSS	HMEC	breast
40	chr1:171404000-171404600	Enhancers	HSMM	muscle
41	chr1:171404000-171404600	Flanking Active TSS	NH-A	brain
42	chr1:171404000-171404800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:171404000-171405200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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