Variant report

Variant	rs60769697
Chromosome Location	chr2:174076277-174076278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:174076182-174076372	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:173911445..173914009-chr2:174074635..174077598,2	K562	blood:
2	chr2:174075523..174078423-chr2:174265356..174267374,2	K562	blood:
3	chr2:174076030..174078880-chr2:174080707..174082990,2	K562	blood:
4	chr2:173939918..173942569-chr2:174074502..174077579,3	MCF-7	breast:

Variant related genes	Relation type
MLK7-AS1	TF binding region
ENSG00000091436	Chromatin interaction
ENSG00000091428	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56200856	1.00[AMR][1000 genomes]
rs57073707	1.00[AMR][1000 genomes]
rs57131128	1.00[AMR][1000 genomes]
rs57152825	1.00[AMR][1000 genomes]
rs6707106	1.00[AMR][1000 genomes]
rs6751482	1.00[AMR][1000 genomes]
rs73971692	1.00[AMR][1000 genomes]
rs73971693	1.00[AMR][1000 genomes]
rs73971696	1.00[AMR][1000 genomes]
rs73971888	1.00[AMR][1000 genomes]
rs73971891	1.00[AMR][1000 genomes]
rs73974104	1.00[AMR][1000 genomes]
rs73974106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73974108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73974109	1.00[AMR][1000 genomes]
rs73974110	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
2	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
3	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
4	chr2:174049400-174078200	Weak transcription	HUVEC	blood vessel
5	chr2:174049600-174079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:174053400-174078400	Weak transcription	Gastric	stomach
7	chr2:174053400-174082000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:174053400-174089800	Weak transcription	Pancreas	Pancrea
9	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
10	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
11	chr2:174061000-174082000	Weak transcription	Fetal Brain Female	brain
12	chr2:174061200-174097600	Weak transcription	Lung	lung
13	chr2:174061400-174092200	Weak transcription	Brain Substantia Nigra	brain
14	chr2:174061600-174077000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:174061600-174083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:174061600-174083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:174061800-174080200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:174063600-174097600	Weak transcription	HSMM	muscle
19	chr2:174063800-174081600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:174063800-174083200	Weak transcription	GM12878-XiMat	blood
21	chr2:174063800-174095000	Weak transcription	Right Ventricle	heart
22	chr2:174064200-174082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:174064200-174083000	Weak transcription	HepG2	liver
24	chr2:174064200-174083400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:174064200-174097600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:174064600-174082000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:174064600-174083200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:174069400-174081800	Weak transcription	Ovary	ovary
29	chr2:174069400-174082200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:174069400-174097000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:174069400-174097600	Weak transcription	Primary B cells from cord blood	blood
32	chr2:174069600-174096600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:174070000-174081800	Weak transcription	Fetal Brain Male	brain
34	chr2:174071800-174094200	Weak transcription	Fetal Thymus	thymus
35	chr2:174072000-174078600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:174072200-174095400	Weak transcription	Right Atrium	heart
37	chr2:174073000-174078000	Weak transcription	Brain Germinal Matrix	brain
38	chr2:174073800-174076800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:174074200-174077000	Enhancers	Rectal Smooth Muscle	rectum
40	chr2:174074200-174077400	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr2:174074200-174077400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:174074400-174076400	Enhancers	Psoas Muscle	Psoas
43	chr2:174074400-174076400	Strong transcription	Dnd41	blood
44	chr2:174074400-174076800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:174074400-174077000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:174074400-174077400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:174074600-174076800	Enhancers	Colon Smooth Muscle	Colon
48	chr2:174074600-174077600	Strong transcription	Fetal Intestine Small	intestine
49	chr2:174075000-174078200	Weak transcription	HMEC	breast
50	chr2:174075200-174078400	Strong transcription	Left Ventricle	heart

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