Variant report

Variant	rs122856
Chromosome Location	chr2:234741022-234741023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234614862..234617067-chr2:234739874..234742811,2	MCF-7	breast:
2	chr2:234607784..234610773-chr2:234739083..234742311,4	MCF-7	breast:
3	chr2:234736743..234738752-chr2:234740641..234743025,2	MCF-7	breast:
4	chr2:234160919..234163001-chr2:234739570..234741620,2	MCF-7	breast:
5	chr2:234738464..234743191-chr2:234754553..234759702,7	K562	blood:
6	chr2:234388065..234390771-chr2:234740107..234742680,2	MCF-7	breast:
7	chr2:234599519..234601666-chr2:234740030..234742555,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167165	Chromatin interaction
ENSG00000185038	Chromatin interaction
ENSG00000123485	Chromatin interaction
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs213547	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs213555	0.92[CEU][hapmap]
rs502059	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs529380	0.96[CEU][hapmap]
rs687215	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv876020	chr2:234724225-234748814	Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv876021	chr2:234725819-234748814	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv876022	chr2:234726154-234748814	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv876023	chr2:234726154-234763137	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1008316	chr2:234728911-234758539	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv15109	chr2:234740532-234741067	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	nsv961012	chr2:234740682-234742127	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234731800-234741200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:234732000-234741200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:234732200-234742000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:234733400-234742200	Weak transcription	Liver	Liver
5	chr2:234736400-234762600	Weak transcription	Right Atrium	heart
6	chr2:234737800-234741600	Weak transcription	Dnd41	blood
7	chr2:234738200-234744000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:234738200-234762000	Weak transcription	Esophagus	oesophagus
9	chr2:234738400-234741600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:234738400-234741800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:234738800-234743000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:234738800-234744000	Weak transcription	NHLF	lung
13	chr2:234739000-234742600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:234739000-234742600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:234739200-234742600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:234739200-234743000	Weak transcription	HepG2	liver
17	chr2:234739400-234742600	Enhancers	Fetal Muscle Trunk	muscle
18	chr2:234739400-234744000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:234739600-234747600	Weak transcription	Brain Germinal Matrix	brain
20	chr2:234739800-234742600	Enhancers	Fetal Muscle Leg	muscle
21	chr2:234739800-234752800	Weak transcription	Spleen	Spleen
22	chr2:234740000-234741400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:234740000-234742400	Weak transcription	Fetal Thymus	thymus
24	chr2:234740000-234760000	Strong transcription	Thymus	Thymus
25	chr2:234740200-234741400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:234740200-234741400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:234740200-234741600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:234740200-234742600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:234740200-234742800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:234740200-234743000	Weak transcription	HMEC	breast
31	chr2:234740200-234761000	Weak transcription	Primary B cells from cord blood	blood
32	chr2:234740400-234762200	Weak transcription	Primary T cells from cord blood	blood
33	chr2:234740600-234742200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:234740600-234742600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:234740600-234742600	Weak transcription	GM12878-XiMat	blood
36	chr2:234740600-234743600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:234740800-234741200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:234740800-234741400	Weak transcription	Fetal Stomach	stomach
39	chr2:234740800-234742200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:234740800-234742600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:234740800-234742600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:234740800-234743400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:234741000-234741600	Enhancers	Osteobl	bone
44	chr2:234741000-234741800	Enhancers	A549	lung
45	chr2:234741000-234741800	Enhancers	NHEK	skin
46	chr2:234741000-234742200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr2:234741000-234742200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:234741000-234742400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:234741000-234742800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:234741000-234742800	Enhancers	Stomach Smooth Muscle	stomach

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