Variant report

Variant	rs4143274
Chromosome Location	chr2:153340213-153340214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153338899..153342224-chr2:153344838..153347667,4	K562	blood:
2	chr2:153326388..153330903-chr2:153339849..153343861,4	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10173899	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10179418	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs10180542	0.82[ASN][1000 genomes]
rs10193625	0.83[CEU][hapmap]
rs10194603	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10208776	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10432493	0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12616906	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693378	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13390698	0.93[JPT][hapmap]
rs13424038	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13427076	0.94[JPT][hapmap]
rs13427990	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16831169	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16831174	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2068886	0.83[CEU][hapmap]
rs2078444	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2346205	0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2346209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2881339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4146259	0.94[JPT][hapmap]
rs4664112	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4664587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4664589	0.83[ASN][1000 genomes]
rs4664590	0.83[ASN][1000 genomes]
rs58121347	0.82[ASN][1000 genomes]
rs59965317	0.91[ASN][1000 genomes]
rs6434059	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[ASN][1000 genomes]
rs6434060	0.96[ASN][1000 genomes]
rs6434061	0.98[ASN][1000 genomes]
rs6434062	0.96[ASN][1000 genomes]
rs6725661	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6737699	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs6747765	0.89[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap]
rs6748954	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs73968029	0.84[ASN][1000 genomes]
rs7559217	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7582984	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7586195	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7587794	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7590207	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7592283	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7593411	0.81[ASN][1000 genomes]
rs7594969	0.80[ASN][1000 genomes]
rs7606592	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[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	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153326200-153345800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:153330800-153342400	Weak transcription	Stomach Mucosa	stomach
3	chr2:153330800-153347400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:153333000-153342200	Weak transcription	Adipose Nuclei	Adipose
5	chr2:153334200-153340600	Weak transcription	HMEC	breast
6	chr2:153334400-153342400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:153334400-153353800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:153335800-153340600	Enhancers	Brain Substantia Nigra	brain
9	chr2:153335800-153341000	Enhancers	Brain Hippocampus Middle	brain
10	chr2:153336000-153347600	Weak transcription	Aorta	Aorta
11	chr2:153336600-153340600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:153336600-153341600	Enhancers	Brain Cingulate Gyrus	brain
13	chr2:153337200-153342400	Enhancers	Fetal Kidney	kidney
14	chr2:153337400-153340600	Enhancers	Brain Anterior Caudate	brain
15	chr2:153337800-153341000	Enhancers	Fetal Stomach	stomach
16	chr2:153338400-153341400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:153338400-153342400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:153338400-153342400	Enhancers	Fetal Intestine Small	intestine
19	chr2:153338400-153345600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:153338400-153345800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:153338600-153340800	Enhancers	A549	lung
22	chr2:153338600-153342200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:153338600-153342200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:153338600-153342200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:153338600-153342400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:153338600-153342400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:153338600-153346600	Weak transcription	Colonic Mucosa	Colon
28	chr2:153338600-153353400	Weak transcription	NHEK	skin
29	chr2:153338800-153340600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:153338800-153342000	Enhancers	HepG2	liver
31	chr2:153339000-153340400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:153339000-153342400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:153339200-153340600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:153339200-153342600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:153339400-153340400	Enhancers	Colon Smooth Muscle	Colon
36	chr2:153339400-153340600	Enhancers	Rectal Smooth Muscle	rectum
37	chr2:153339400-153340800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr2:153339400-153342200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:153339400-153345600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:153339600-153340400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:153339600-153340600	Enhancers	Brain Angular Gyrus	brain
42	chr2:153339600-153340600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr2:153339600-153340800	Enhancers	Fetal Lung	lung
44	chr2:153339800-153341800	Weak transcription	Fetal Intestine Large	intestine
45	chr2:153340000-153340600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:153340000-153340600	Enhancers	Ovary	ovary
47	chr2:153340000-153340600	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr2:153340000-153340600	Enhancers	Small Intestine	intestine
49	chr2:153340000-153340800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:153340000-153340800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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