Variant report

Variant	rs7287885
Chromosome Location	chr22:30693961-30693962
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30692849..30696422-chr22:30721996..30724187,4	MCF-7	breast:
2	chr22:30691985..30694269-chr22:30820626..30822582,2	MCF-7	breast:
3	chr22:30692983..30695862-chr22:30751814..30754169,4	MCF-7	breast:
4	chr22:30692354..30698688-chr22:30699927..30704803,9	K562	blood:
5	chr22:30692473..30695111-chr22:30722676..30724964,2	K562	blood:

Variant related genes	Relation type
ENSG00000099992	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000242114	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12157860	1.00[AMR][1000 genomes]
rs57907583	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5994294	0.84[YRI][hapmap]
rs5997621	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs7291572	1.00[AMR][1000 genomes]
rs73881407	1.00[AMR][1000 genomes]
rs73881419	1.00[AMR][1000 genomes]
rs73881429	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881440	1.00[AMR][1000 genomes]
rs73881449	1.00[AMR][1000 genomes]
rs8137033	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8142835	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1062388	chr22:30649179-30711443	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv1799458	chr22:30659798-30698035	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30686000-30700000	Weak transcription	Fetal Kidney	kidney
2	chr22:30686200-30720000	Weak transcription	Fetal Brain Male	brain
3	chr22:30686400-30701800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr22:30686600-30700600	Genic enhancers	Fetal Thymus	thymus
5	chr22:30686800-30694800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr22:30686800-30701800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:30686800-30707200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr22:30687000-30695800	Strong transcription	Brain Germinal Matrix	brain
9	chr22:30687000-30699600	Strong transcription	Fetal Brain Female	brain
10	chr22:30687200-30697200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr22:30687400-30695200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:30687400-30695800	Strong transcription	Primary B cells from cord blood	blood
13	chr22:30687400-30696400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr22:30687400-30696600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr22:30687400-30701200	Weak transcription	K562	blood
16	chr22:30687400-30706800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr22:30687600-30694000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:30687600-30694200	Strong transcription	Fetal Intestine Large	intestine
19	chr22:30687600-30694600	Strong transcription	Fetal Intestine Small	intestine
20	chr22:30687600-30695600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:30687600-30696400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr22:30687600-30697200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:30687600-30699000	Weak transcription	HepG2	liver
24	chr22:30687600-30699800	Genic enhancers	Esophagus	oesophagus
25	chr22:30687600-30701400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr22:30687800-30694200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:30687800-30696400	Weak transcription	NHDF-Ad	bronchial
28	chr22:30687800-30696600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr22:30687800-30697600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr22:30687800-30698000	Strong transcription	Osteobl	bone
31	chr22:30688000-30694000	Strong transcription	Colonic Mucosa	Colon
32	chr22:30688000-30694000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr22:30688000-30694200	Strong transcription	Rectal Smooth Muscle	rectum
34	chr22:30688000-30694400	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr22:30688000-30697400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr22:30688000-30697400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr22:30688000-30697600	Weak transcription	HUVEC	blood vessel
38	chr22:30688200-30694000	Strong transcription	Dnd41	blood
39	chr22:30688200-30696400	Strong transcription	Adipose Nuclei	Adipose
40	chr22:30688200-30696800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr22:30688200-30697200	Weak transcription	Brain Angular Gyrus	brain
42	chr22:30688200-30697200	Strong transcription	HSMMtube	muscle
43	chr22:30688200-30697800	Strong transcription	NHLF	lung
44	chr22:30688200-30698400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr22:30688200-30698600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr22:30688200-30699200	Strong transcription	Aorta	Aorta
47	chr22:30688200-30700600	Strong transcription	Fetal Stomach	stomach
48	chr22:30688400-30694200	Strong transcription	NHEK	skin
49	chr22:30688400-30694400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr22:30688400-30694800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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