Variant report

Variant	rs6733135
Chromosome Location	chr2:99444339-99444340
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	chr2:99437609..99439814-chr2:99443387..99445956,2	MCF-7	breast:
2	chr2:99443633..99446031-chr2:99448768..99450507,2	K562	blood:

Variant related genes	Relation type
ENSG00000196872	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17021968	1.00[CHB][hapmap]
rs1983353	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2203432	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs6711639	0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72811007	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811065	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv582517	chr2:99440917-99487972	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99435600-99444600	Weak transcription	Hela-S3	cervix
2	chr2:99438800-99448600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:99439800-99444600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:99439800-99446200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:99439800-99448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:99440000-99447600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:99440000-99460600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:99440200-99449800	Weak transcription	Colonic Mucosa	Colon
9	chr2:99440400-99453800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:99440400-99463400	Weak transcription	Fetal Intestine Large	intestine
11	chr2:99440600-99445600	Weak transcription	Right Atrium	heart
12	chr2:99440600-99445600	Weak transcription	Spleen	Spleen
13	chr2:99440600-99449600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:99440600-99449600	Weak transcription	HMEC	breast
15	chr2:99440600-99453800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:99441000-99445200	Weak transcription	Thymus	Thymus
17	chr2:99441000-99449600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:99441400-99445200	Weak transcription	HUVEC	blood vessel
19	chr2:99441800-99444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:99441800-99445600	Weak transcription	Lung	lung
21	chr2:99441800-99446600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr2:99441800-99449000	Weak transcription	Brain Anterior Caudate	brain
23	chr2:99442000-99444400	Strong transcription	Fetal Intestine Small	intestine
24	chr2:99442200-99444400	Weak transcription	Primary T cells from cord blood	blood
25	chr2:99442200-99444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:99442200-99444600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:99442200-99445200	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:99442400-99445600	Weak transcription	Left Ventricle	heart
29	chr2:99442600-99449800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:99442800-99444800	Weak transcription	Primary B cells from cord blood	blood
31	chr2:99442800-99444800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:99442800-99445000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr2:99443000-99445600	Weak transcription	Stomach Mucosa	stomach
34	chr2:99443000-99448600	Weak transcription	Brain Angular Gyrus	brain
35	chr2:99443000-99448600	Weak transcription	Right Ventricle	heart
36	chr2:99443200-99444800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:99443600-99450400	Weak transcription	Pancreas	Pancrea
38	chr2:99443800-99447800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:99443800-99448600	Weak transcription	Esophagus	oesophagus
40	chr2:99443800-99449600	Weak transcription	Gastric	stomach
41	chr2:99444000-99444800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:99444000-99445600	Enhancers	Dnd41	blood
43	chr2:99444000-99446600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr2:99444000-99447400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:99444200-99444800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:99444200-99445400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:99444200-99446400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr2:99444200-99446400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr2:99444200-99446800	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr2:99444200-99446800	Enhancers	Primary T helper cells fromperipheralblood	blood

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