Variant report

Variant	rs34214036
Chromosome Location	chr3:196367484-196367485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196365267..196368079-chr3:196439058..196441272,2	K562	blood:
2	chr3:196357652..196362055-chr3:196366972..196372396,7	MCF-7	breast:
3	chr3:196366955..196369302-chr3:196387921..196390503,2	K562	blood:
4	chr3:196367223..196368750-chr3:196384180..196387081,2	K562	blood:
5	chr3:196365233..196368079-chr3:196439058..196440844,2	K562	blood:
6	chr3:196336009..196336941-chr3:196366831..196367714,2	NB4	blood:

Variant related genes	Relation type
ENSG00000163964	Chromatin interaction
ENSG00000232065	Chromatin interaction
ENSG00000174007	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11185551	0.96[ASN][1000 genomes]
rs11710998	1.00[AFR][1000 genomes]
rs11719122	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34282171	1.00[AFR][1000 genomes]
rs7636493	0.98[ASN][1000 genomes]
rs7636495	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS 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	47 gene(s)	inside rSNPs	diseases
5	nsv491864	chr3:196263064-196468533	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv829828	chr3:196268121-196463641	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1010643	chr3:196288064-196788645	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	nsv878188	chr3:196312124-196553867	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1003135	chr3:196348721-196738953	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer 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

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196365000-196370400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:196365400-196369800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr3:196365600-196369000	Active TSS	Rectal Smooth Muscle	rectum
4	chr3:196365600-196369600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:196365600-196370000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr3:196365800-196367800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr3:196365800-196368800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
8	chr3:196366000-196369000	Active TSS	Right Atrium	heart
9	chr3:196366200-196367800	Active TSS	Brain Anterior Caudate	brain
10	chr3:196366200-196367800	Active TSS	Psoas Muscle	Psoas
11	chr3:196366200-196367800	Active TSS	Spleen	Spleen
12	chr3:196366200-196368000	Active TSS	Right Ventricle	heart
13	chr3:196366400-196367600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:196366400-196367600	Active TSS	Brain Substantia Nigra	brain
15	chr3:196366400-196367800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
16	chr3:196366400-196367800	Active TSS	Small Intestine	intestine
17	chr3:196366400-196368000	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr3:196366400-196368000	Bivalent/Poised TSS	Fetal Stomach	stomach
19	chr3:196366600-196367600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:196366600-196367600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
21	chr3:196366600-196367800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:196366600-196367800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:196366800-196367800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr3:196366800-196367800	Flanking Active TSS	GM12878-XiMat	blood
25	chr3:196366800-196368000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr3:196366800-196368000	Flanking Active TSS	K562	blood
27	chr3:196366800-196368600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:196366800-196368600	Flanking Active TSS	Fetal Thymus	thymus
29	chr3:196366800-196368600	Active TSS	Lung	lung
30	chr3:196366800-196369000	Flanking Active TSS	Thymus	Thymus
31	chr3:196366800-196369200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr3:196366800-196369800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr3:196366800-196370000	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr3:196366800-196370000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:196366800-196371200	Transcr. at gene 5' and 3'	Dnd41	blood
36	chr3:196367000-196367600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr3:196367000-196367600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:196367000-196367600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
39	chr3:196367000-196367600	Bivalent/Poised TSS	Left Ventricle	heart
40	chr3:196367000-196368000	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr3:196367000-196368000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:196367000-196368000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr3:196367000-196368000	Active TSS	Esophagus	oesophagus
44	chr3:196367000-196369400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr3:196367000-196369600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr3:196367000-196370400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr3:196367000-196372000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:196367000-196372600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
49	chr3:196367200-196367600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:196367200-196367600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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