Variant report

Variant	rs16831413
Chromosome Location	chr2:153437153-153437154
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153431363..153434318-chr2:153436481..153440010,3	K562	blood:
2	chr2:153431392..153434318-chr2:153435903..153437981,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10497107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678890	0.82[JPT][hapmap]
rs11892222	0.80[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13002771	0.82[JPT][hapmap]
rs1370500	0.80[CEU][hapmap];0.88[EUR][1000 genomes]
rs1370501	0.85[EUR][1000 genomes]
rs16823807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16823809	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16823813	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16831392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831410	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17327752	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17399648	0.82[JPT][hapmap]
rs2678299	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3811572	1.00[ASN][1000 genomes]
rs56220401	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57173254	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58383962	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59103281	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61698095	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434081	0.82[JPT][hapmap]
rs6706231	0.82[JPT][hapmap]
rs6749146	0.82[JPT][hapmap]
rs6760321	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7573833	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7599894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes]
rs7600114	0.98[EUR][1000 genomes]
rs9753431	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153400000-153438000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153400000-153468200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:153400600-153442000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:153403200-153448000	Weak transcription	Lung	lung
5	chr2:153404200-153442400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:153405200-153441800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:153407600-153437800	Weak transcription	Pancreas	Pancrea
8	chr2:153415000-153438200	Weak transcription	Fetal Lung	lung
9	chr2:153416400-153438000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:153416400-153454200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:153416400-153465200	Weak transcription	Left Ventricle	heart
12	chr2:153417800-153442000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:153418200-153437400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:153418800-153444600	Weak transcription	Fetal Brain Male	brain
15	chr2:153419200-153437400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:153419600-153438000	Weak transcription	Fetal Intestine Large	intestine
17	chr2:153420400-153443400	Weak transcription	Fetal Intestine Small	intestine
18	chr2:153423800-153471200	Weak transcription	Fetal Kidney	kidney
19	chr2:153425200-153438000	Weak transcription	Fetal Brain Female	brain
20	chr2:153425600-153438200	Enhancers	Brain Hippocampus Middle	brain
21	chr2:153428000-153438000	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:153428000-153442000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:153428000-153468200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:153428200-153440000	Weak transcription	Fetal Heart	heart
25	chr2:153428200-153456000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:153428400-153437400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:153428400-153437800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:153428400-153437800	Weak transcription	Adipose Nuclei	Adipose
29	chr2:153429200-153456200	Weak transcription	Spleen	Spleen
30	chr2:153429600-153442200	Strong transcription	HepG2	liver
31	chr2:153429800-153437800	Weak transcription	HSMMtube	muscle
32	chr2:153429800-153439600	Weak transcription	A549	lung
33	chr2:153430000-153440200	Weak transcription	NH-A	brain
34	chr2:153430000-153449400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:153430200-153437200	Weak transcription	HMEC	breast
36	chr2:153430200-153437400	Weak transcription	HSMM	muscle
37	chr2:153430200-153438000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:153430200-153440800	Weak transcription	NHLF	lung
39	chr2:153430400-153441200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:153431400-153438000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr2:153431600-153437800	Weak transcription	NHDF-Ad	bronchial
42	chr2:153433400-153438600	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:153433600-153438000	Weak transcription	NHEK	skin
44	chr2:153434000-153438000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:153434200-153437800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:153434200-153438000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:153434200-153438000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:153434200-153442600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:153434200-153473600	Weak transcription	Brain Germinal Matrix	brain
50	chr2:153434400-153437200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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