Variant report

Variant	rs2881338
Chromosome Location	chr2:153339919-153339920
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	chr2:153338899..153342224-chr2:153344838..153347667,4	K562	blood:
2	chr2:153326388..153330903-chr2:153339849..153343861,4	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10460316	0.83[EUR][1000 genomes]
rs10931146	0.88[JPT][hapmap]
rs11884490	0.83[EUR][1000 genomes]
rs11897348	0.85[EUR][1000 genomes]
rs12105467	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12105483	0.81[EUR][1000 genomes]
rs12989726	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12992900	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13033468	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16831031	0.83[EUR][1000 genomes]
rs16831135	0.93[EUR][1000 genomes]
rs16831229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16831246	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16831247	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16831263	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34027587	0.83[EUR][1000 genomes]
rs34520795	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35455499	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4233659	0.81[EUR][1000 genomes]
rs4664108	0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4664111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4664584	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4664588	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55692468	0.83[ASN][1000 genomes]
rs60280470	0.90[EUR][1000 genomes]
rs67374211	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6739557	1.00[CEU][hapmap]
rs71417228	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7582905	0.93[EUR][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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153324800-153340000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:153326200-153345800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:153329200-153340000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:153329600-153340000	Weak transcription	Ovary	ovary
5	chr2:153330800-153342400	Weak transcription	Stomach Mucosa	stomach
6	chr2:153330800-153347400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:153333000-153342200	Weak transcription	Adipose Nuclei	Adipose
8	chr2:153334200-153340600	Weak transcription	HMEC	breast
9	chr2:153334400-153342400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:153334400-153353800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:153335800-153340600	Enhancers	Brain Substantia Nigra	brain
12	chr2:153335800-153341000	Enhancers	Brain Hippocampus Middle	brain
13	chr2:153336000-153347600	Weak transcription	Aorta	Aorta
14	chr2:153336600-153340600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:153336600-153341600	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:153337200-153342400	Enhancers	Fetal Kidney	kidney
17	chr2:153337400-153340600	Enhancers	Brain Anterior Caudate	brain
18	chr2:153337600-153340000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:153337800-153341000	Enhancers	Fetal Stomach	stomach
20	chr2:153338000-153340200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:153338400-153341400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:153338400-153342400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:153338400-153342400	Enhancers	Fetal Intestine Small	intestine
24	chr2:153338400-153345600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:153338400-153345800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:153338600-153340000	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:153338600-153340000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:153338600-153340800	Enhancers	A549	lung
29	chr2:153338600-153342200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:153338600-153342200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:153338600-153342200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:153338600-153342400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:153338600-153342400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:153338600-153346600	Weak transcription	Colonic Mucosa	Colon
35	chr2:153338600-153353400	Weak transcription	NHEK	skin
36	chr2:153338800-153340600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:153338800-153342000	Enhancers	HepG2	liver
38	chr2:153339000-153340400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:153339000-153342400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:153339200-153340000	Weak transcription	Psoas Muscle	Psoas
41	chr2:153339200-153340200	Enhancers	Liver	Liver
42	chr2:153339200-153340600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:153339200-153342600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:153339400-153340400	Enhancers	Colon Smooth Muscle	Colon
45	chr2:153339400-153340600	Enhancers	Rectal Smooth Muscle	rectum
46	chr2:153339400-153340800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr2:153339400-153342200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr2:153339400-153345600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:153339600-153340400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr2:153339600-153340600	Enhancers	Brain Angular Gyrus	brain

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