Variant report

Variant	rs6742066
Chromosome Location	chr2:153329163-153329164
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153328146..153330092-chr2:153417447..153419357,2	K562	blood:
2	chr2:153326388..153330903-chr2:153339849..153343861,4	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10169514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10191361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684450	1.00[CHB][hapmap]
rs11902693	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12471183	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1579050	0.90[ASN][1000 genomes]
rs17399080	1.00[CHB][hapmap]
rs1878632	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2346206	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3811574	0.91[CEU][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4664109	1.00[CHB][hapmap]
rs4664586	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs55882252	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62180804	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6434068	0.90[ASN][1000 genomes]
rs6714213	0.90[ASN][1000 genomes]
rs6731738	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6744391	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6759772	1.00[CHB][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2830258	chr2:153318339-153349165	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153320800-153329400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:153320800-153331600	Enhancers	Hela-S3	cervix
3	chr2:153321000-153329600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:153322800-153329200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:153324400-153331000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:153324600-153330800	Enhancers	Fetal Intestine Small	intestine
7	chr2:153324800-153340000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:153325800-153330000	Enhancers	Small Intestine	intestine
9	chr2:153326000-153329800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr2:153326000-153330000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:153326000-153330800	Enhancers	Stomach Mucosa	stomach
12	chr2:153326000-153331600	Enhancers	Brain Cingulate Gyrus	brain
13	chr2:153326200-153330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:153326200-153330600	Weak transcription	Lung	lung
15	chr2:153326200-153332600	Weak transcription	Adipose Nuclei	Adipose
16	chr2:153326200-153333000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:153326200-153334200	Enhancers	Brain Anterior Caudate	brain
18	chr2:153326200-153339200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:153326200-153345800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:153326800-153329600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:153326800-153330200	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:153327000-153329600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:153327200-153329400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:153327200-153329400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:153327200-153329400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:153327200-153329600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:153327200-153330800	Enhancers	Fetal Intestine Large	intestine
28	chr2:153327200-153330800	Enhancers	Fetal Lung	lung
29	chr2:153327400-153329200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:153327400-153329400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:153327400-153329400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:153327400-153329400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr2:153327400-153331400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr2:153327600-153330800	Enhancers	Liver	Liver
35	chr2:153327600-153330800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr2:153327800-153329400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr2:153327800-153329600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr2:153327800-153329600	Enhancers	Ovary	ovary
39	chr2:153328000-153329400	Enhancers	Duodenum Mucosa	Duodenum
40	chr2:153328000-153329400	Enhancers	Right Atrium	heart
41	chr2:153328000-153329600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr2:153328000-153329800	Enhancers	Left Ventricle	heart
43	chr2:153328000-153333200	Enhancers	Psoas Muscle	Psoas
44	chr2:153328200-153332400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:153328400-153332600	Weak transcription	Aorta	Aorta
46	chr2:153328600-153329200	Enhancers	Stomach Smooth Muscle	stomach
47	chr2:153328600-153329600	Enhancers	Brain Angular Gyrus	brain
48	chr2:153328600-153330200	Enhancers	Placenta	Placenta
49	chr2:153328600-153330600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr2:153328600-153332400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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