Variant report

Variant	rs6717067
Chromosome Location	chr2:174078413-174078414
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:174075523..174078423-chr2:174265356..174267374,2	K562	blood:
2	chr2:174065533..174067512-chr2:174076722..174079013,2	MCF-7	breast:
3	chr2:174076030..174078880-chr2:174080707..174082990,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16861295	0.94[ASN][1000 genomes]
rs16861304	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16861323	0.99[ASN][1000 genomes]
rs1866631	0.80[AFR][1000 genomes]
rs2119124	0.97[ASN][1000 genomes]
rs2289395	1.00[ASN][1000 genomes]
rs3769155	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769164	0.99[ASN][1000 genomes]
rs3769166	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3769175	0.99[ASN][1000 genomes]
rs3769176	0.94[ASN][1000 genomes]
rs3769179	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3769183	0.92[ASN][1000 genomes]
rs58407376	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59935415	0.99[ASN][1000 genomes]
rs61183795	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6753354	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73971702	0.99[ASN][1000 genomes]
rs7566222	0.99[ASN][1000 genomes]
rs7571788	0.99[ASN][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:80 , 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	chr2:174049600-174079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:174053400-174082000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:174053400-174089800	Weak transcription	Pancreas	Pancrea
7	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
8	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
9	chr2:174061000-174082000	Weak transcription	Fetal Brain Female	brain
10	chr2:174061200-174097600	Weak transcription	Lung	lung
11	chr2:174061400-174092200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:174061600-174083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:174061600-174083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:174061800-174080200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:174063600-174097600	Weak transcription	HSMM	muscle
16	chr2:174063800-174081600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:174063800-174083200	Weak transcription	GM12878-XiMat	blood
18	chr2:174063800-174095000	Weak transcription	Right Ventricle	heart
19	chr2:174064200-174082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:174064200-174083000	Weak transcription	HepG2	liver
21	chr2:174064200-174083400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:174064200-174097600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:174064600-174082000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:174064600-174083200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:174069400-174081800	Weak transcription	Ovary	ovary
26	chr2:174069400-174082200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:174069400-174097000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:174069400-174097600	Weak transcription	Primary B cells from cord blood	blood
29	chr2:174069600-174096600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:174070000-174081800	Weak transcription	Fetal Brain Male	brain
31	chr2:174071800-174094200	Weak transcription	Fetal Thymus	thymus
32	chr2:174072000-174078600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:174072200-174095400	Weak transcription	Right Atrium	heart
34	chr2:174075400-174082000	Weak transcription	NHLF	lung
35	chr2:174075400-174097600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:174075600-174078800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:174075600-174080800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:174075600-174083000	Weak transcription	Fetal Kidney	kidney
39	chr2:174075800-174081600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:174075800-174081600	Weak transcription	Fetal Lung	lung
41	chr2:174075800-174081800	Weak transcription	NH-A	brain
42	chr2:174075800-174082800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:174075800-174082800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:174075800-174083000	Weak transcription	Adipose Nuclei	Adipose
45	chr2:174076000-174081800	Weak transcription	NHDF-Ad	bronchial
46	chr2:174076000-174083000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:174076200-174082800	Weak transcription	Fetal Heart	heart
48	chr2:174076400-174081800	Weak transcription	Psoas Muscle	Psoas
49	chr2:174076400-174082200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:174076400-174083200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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