Variant report

Variant	rs3811574
Chromosome Location	chr2:153346845-153346846
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153338899..153342224-chr2:153344838..153347667,4	K562	blood:
2	chr2:153333966..153336557-chr2:153346831..153349647,2	MCF-7	breast:
3	chr2:153345928..153348906-chr2:153354040..153356962,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10169514	0.87[CEU][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10191361	0.87[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931146	0.87[CEU][hapmap]
rs11902693	0.90[ASN][1000 genomes]
rs12471183	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1579050	0.83[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17399080	1.00[CHD][hapmap]
rs1878632	1.00[CHD][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs2346206	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664586	1.00[YRI][hapmap]
rs55882252	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180804	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434068	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714213	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731738	0.83[EUR][1000 genomes]
rs6742066	0.91[CEU][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6744391	1.00[YRI][hapmap]
rs6759772	0.88[YRI][hapmap]

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	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
4	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
5	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
6	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
7	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	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	chr2:153330800-153347400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:153334400-153353800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:153336000-153347600	Weak transcription	Aorta	Aorta
4	chr2:153338600-153353400	Weak transcription	NHEK	skin
5	chr2:153340600-153347400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:153340600-153354200	Weak transcription	Small Intestine	intestine
7	chr2:153342000-153349000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:153342000-153351600	Enhancers	Brain Substantia Nigra	brain
9	chr2:153342000-153351800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:153342400-153350000	Weak transcription	Right Ventricle	heart
11	chr2:153342600-153355800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:153343000-153347800	Weak transcription	Stomach Mucosa	stomach
13	chr2:153343000-153360600	Enhancers	Brain Anterior Caudate	brain
14	chr2:153343200-153347200	Enhancers	Brain Hippocampus Middle	brain
15	chr2:153343200-153347400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:153343200-153350000	Weak transcription	HUVEC	blood vessel
17	chr2:153343400-153347000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:153343400-153348200	Enhancers	HepG2	liver
19	chr2:153343600-153347200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:153343600-153347400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:153343600-153347600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:153343800-153347400	Weak transcription	Fetal Intestine Large	intestine
23	chr2:153343800-153349800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:153344600-153347400	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:153344800-153348200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:153344800-153351000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:153345000-153348000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:153345000-153351600	Enhancers	Fetal Lung	lung
29	chr2:153345200-153348800	Enhancers	Fetal Stomach	stomach
30	chr2:153345200-153349000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:153345400-153348000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:153345400-153348600	Enhancers	Fetal Muscle Leg	muscle
33	chr2:153345400-153348600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:153345400-153351400	Enhancers	Brain Angular Gyrus	brain
35	chr2:153345600-153347400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:153345600-153347800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:153345600-153348000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:153345600-153348000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr2:153345600-153348600	Enhancers	Placenta	Placenta
40	chr2:153345600-153348800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:153345600-153349400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:153345600-153349600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:153345600-153350800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:153345800-153348000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:153345800-153348000	Enhancers	Colon Smooth Muscle	Colon
46	chr2:153345800-153348200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:153345800-153348400	Enhancers	Right Atrium	heart
48	chr2:153345800-153348600	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr2:153345800-153350000	Weak transcription	Gastric	stomach
50	chr2:153345800-153351600	Enhancers	HUES64 Cell Line	embryonic stem cell

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