Variant report

Variant	rs1442432
Chromosome Location	chr2:187352289-187352290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187349672..187352615-chr2:187454696..187458504,4	K562	blood:
2	chr2:187350319..187353074-chr2:187452754..187457832,8	K562	blood:
3	chr2:187352160..187354477-chr2:187361786..187364849,3	MCF-7	breast:
4	chr2:187350930..187352982-chr2:187364915..187367637,2	MCF-7	breast:
5	chr2:187350028..187353171-chr2:187452977..187457092,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138448	Chromatin interaction
ENSG00000268846	Chromatin interaction
ENSG00000213953	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10177972	1.00[AMR][1000 genomes]
rs10188241	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12463482	1.00[AMR][1000 genomes]
rs1349155	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1349156	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1375320	1.00[AMR][1000 genomes]
rs1448853	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1448864	1.00[AMR][1000 genomes]
rs1451879	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs1823298	1.00[AMR][1000 genomes]
rs1992931	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2084487	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4667096	0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59395554	1.00[AMR][1000 genomes]
rs60816826	1.00[AMR][1000 genomes]
rs61318824	1.00[AMR][1000 genomes]
rs62196179	1.00[AMR][1000 genomes]
rs6434178	1.00[AMR][1000 genomes]
rs6723903	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6727428	1.00[AMR][1000 genomes]
rs6740754	1.00[AMR][1000 genomes]
rs6741234	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs6759051	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979110	1.00[AMR][1000 genomes]
rs73979115	1.00[AMR][1000 genomes]
rs73979116	1.00[AMR][1000 genomes]
rs73979131	1.00[AMR][1000 genomes]
rs73979138	1.00[AMR][1000 genomes]
rs73979143	1.00[AMR][1000 genomes]
rs73979161	1.00[AMR][1000 genomes]
rs73979174	1.00[AMR][1000 genomes]
rs73979189	1.00[AMR][1000 genomes]
rs7558856	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs967425	0.91[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187348200-187353400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr2:187348600-187352600	Active TSS	Fetal Intestine Small	intestine
3	chr2:187348600-187353000	Active TSS	Fetal Intestine Large	intestine
4	chr2:187348800-187353200	Active TSS	K562	blood
5	chr2:187349000-187352800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:187349000-187353200	Active TSS	GM12878-XiMat	blood
7	chr2:187349000-187354000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr2:187349400-187353800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:187349600-187352600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:187349600-187353200	Active TSS	Psoas Muscle	Psoas
11	chr2:187349800-187352400	Active TSS	A549	lung
12	chr2:187349800-187352600	Active TSS	HSMMtube	muscle
13	chr2:187349800-187352600	Active TSS	NHEK	skin
14	chr2:187349800-187353000	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr2:187349800-187353200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:187349800-187353200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:187349800-187353200	Active TSS	HMEC	breast
18	chr2:187349800-187353400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:187350000-187352400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr2:187350000-187352400	Active TSS	H1 Cell Line	embryonic stem cell
21	chr2:187350000-187352400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr2:187350000-187352400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:187350000-187352400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:187350000-187352400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:187350000-187352400	Active TSS	Aorta	Aorta
26	chr2:187350000-187352400	Active TSS	Fetal Muscle Trunk	muscle
27	chr2:187350000-187352400	Active TSS	NH-A	brain
28	chr2:187350000-187352600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr2:187350000-187352600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:187350000-187352600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:187350000-187352600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:187350000-187352600	Active TSS	Ovary	ovary
33	chr2:187350000-187352600	Active TSS	Stomach Smooth Muscle	stomach
34	chr2:187350000-187352600	Active TSS	NHLF	lung
35	chr2:187350000-187353000	Active TSS	Right Ventricle	heart
36	chr2:187350200-187352400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:187350200-187352400	Active TSS	Fetal Muscle Leg	muscle
38	chr2:187350200-187352400	Active TSS	Fetal Thymus	thymus
39	chr2:187350200-187352600	Active TSS	HSMM	muscle
40	chr2:187350200-187353200	Active TSS	Hela-S3	cervix
41	chr2:187350200-187353600	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr2:187350400-187353800	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr2:187351200-187352600	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr2:187351200-187352600	Active TSS	Right Atrium	heart
45	chr2:187351400-187352400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr2:187351400-187352600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:187351600-187352400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr2:187351600-187352400	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr2:187351600-187352400	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr2:187351600-187352600	Flanking Active TSS	Primary T cells from cord blood	blood

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