Variant report

Variant	rs2252430
Chromosome Location	chr6:36103921-36103922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36103859..36106267-chr6:36107893..36109602,2	K562	blood:
2	chr6:36103362..36106305-chr6:36163003..36165422,3	K562	blood:
3	chr6:36097197..36101295-chr6:36101453..36104026,5	MCF-7	breast:
4	chr6:36103082..36104943-chr6:36163048..36165464,3	MCF-7	breast:
5	chr6:36103745..36105957-chr6:36111672..36113265,2	K562	blood:

Variant related genes	Relation type
ENSG00000156711	Chromatin interaction
ENSG00000096070	Chromatin interaction
ENSG00000246982	Chromatin interaction
ENSG00000221743	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12191295	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815808	0.89[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815810	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2859130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711434	0.90[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457880	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs6457883	0.90[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927278	0.90[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470224	0.80[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36098200-36107000	Weak transcription	HSMMtube	muscle
2	chr6:36099200-36117400	Weak transcription	Psoas Muscle	Psoas
3	chr6:36099800-36104200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:36099800-36104400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:36099800-36107400	Weak transcription	Fetal Brain Male	brain
6	chr6:36099800-36107400	Weak transcription	Fetal Brain Female	brain
7	chr6:36099800-36107600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:36099800-36113400	Weak transcription	Right Atrium	heart
9	chr6:36100000-36104400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:36100000-36109600	Weak transcription	Brain Anterior Caudate	brain
11	chr6:36100200-36105800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:36100200-36108200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:36100200-36111000	Weak transcription	Adipose Nuclei	Adipose
14	chr6:36100200-36111000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:36100200-36115000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:36100400-36104200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:36100400-36107600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:36100400-36107600	Weak transcription	Brain Angular Gyrus	brain
19	chr6:36100400-36107800	Weak transcription	Liver	Liver
20	chr6:36100400-36109400	Weak transcription	Osteobl	bone
21	chr6:36100400-36117400	Weak transcription	Fetal Lung	lung
22	chr6:36100400-36118600	Weak transcription	Small Intestine	intestine
23	chr6:36100600-36104200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:36100600-36106000	Weak transcription	NHLF	lung
25	chr6:36100600-36108000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:36100600-36108800	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:36100600-36110000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:36100800-36104600	Genic enhancers	Fetal Intestine Large	intestine
29	chr6:36100800-36107400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr6:36100800-36108000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:36100800-36108200	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr6:36100800-36114600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:36101000-36104200	Weak transcription	Fetal Muscle Leg	muscle
34	chr6:36101000-36107000	Weak transcription	Fetal Heart	heart
35	chr6:36101000-36107600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr6:36101000-36108800	Strong transcription	Fetal Stomach	stomach
37	chr6:36101000-36109000	Weak transcription	Stomach Mucosa	stomach
38	chr6:36101200-36104200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:36101200-36107400	Strong transcription	Primary T cells from cord blood	blood
40	chr6:36101200-36108400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:36101200-36109000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:36101200-36129400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr6:36101400-36106800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr6:36101400-36107400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:36101400-36108200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr6:36101400-36109000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr6:36101400-36114600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:36101600-36104000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:36101800-36107400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr6:36101800-36107400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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