Variant report

Variant	rs10169514
Chromosome Location	chr2:153327157-153327158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153320822..153322882-chr2:153325316..153328056,3	MCF-7	breast:
2	chr2:153320112..153322379-chr2:153325356..153328179,2	K562	blood:
3	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]
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	0.80[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	0.87[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]
rs6742066	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]
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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153317400-153328000	Enhancers	Brain Substantia Nigra	brain
2	chr2:153318400-153327200	Enhancers	HepG2	liver
3	chr2:153320600-153328400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:153320800-153329400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:153320800-153331600	Enhancers	Hela-S3	cervix
6	chr2:153321000-153329600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:153322800-153329200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:153324200-153329000	Weak transcription	Right Ventricle	heart
9	chr2:153324400-153331000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:153324600-153327200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:153324600-153328000	Weak transcription	Placenta	Placenta
12	chr2:153324600-153330800	Enhancers	Fetal Intestine Small	intestine
13	chr2:153324800-153327200	Weak transcription	Fetal Stomach	stomach
14	chr2:153324800-153340000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:153325200-153329000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:153325600-153327200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:153325600-153327800	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:153325800-153327800	Weak transcription	Fetal Brain Male	brain
19	chr2:153325800-153330000	Enhancers	Small Intestine	intestine
20	chr2:153326000-153327200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:153326000-153327200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr2:153326000-153327600	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:153326000-153328000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:153326000-153328000	Enhancers	Brain Angular Gyrus	brain
25	chr2:153326000-153328000	Weak transcription	NHLF	lung
26	chr2:153326000-153328200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:153326000-153328600	Enhancers	Fetal Kidney	kidney
28	chr2:153326000-153329000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr2:153326000-153329000	Enhancers	A549	lung
30	chr2:153326000-153329800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:153326000-153330000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:153326000-153330800	Enhancers	Stomach Mucosa	stomach
33	chr2:153326000-153331600	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:153326200-153327200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:153326200-153327200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:153326200-153327200	Weak transcription	Fetal Intestine Large	intestine
37	chr2:153326200-153327200	Weak transcription	Fetal Lung	lung
38	chr2:153326200-153327400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:153326200-153327400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:153326200-153327400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:153326200-153327400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:153326200-153327600	Weak transcription	Fetal Heart	heart
43	chr2:153326200-153327600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr2:153326200-153327800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:153326200-153327800	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:153326200-153327800	Weak transcription	Ovary	ovary
47	chr2:153326200-153328000	Weak transcription	Left Ventricle	heart
48	chr2:153326200-153328000	Weak transcription	Right Atrium	heart
49	chr2:153326200-153328000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:153326200-153328000	Weak transcription	Stomach Smooth Muscle	stomach

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