Variant report

Variant	rs16857649
Chromosome Location	chr2:11714426-11714427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11694156..11696211-chr2:11713975..11716085,2	K562	blood:
2	chr2:11714285..11716170-chr2:11718112..11720675,2	K562	blood:
3	chr2:11692018..11694220-chr2:11712327..11714726,2	K562	blood:
4	chr2:11713329..11715208-chr2:11722167..11724043,2	K562	blood:
5	chr2:11710630..11712541-chr2:11713700..11716597,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10174816	1.00[CEU][hapmap]
rs10183250	1.00[EUR][1000 genomes]
rs10803734	1.00[EUR][1000 genomes]
rs11886664	1.00[CEU][hapmap]
rs11890221	1.00[EUR][1000 genomes]
rs11895768	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13420559	1.00[EUR][1000 genomes]
rs13421766	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13424731	1.00[EUR][1000 genomes]
rs13431704	1.00[CEU][hapmap]
rs13432243	1.00[CEU][hapmap]
rs16857699	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4387757	1.00[CEU][hapmap]
rs4668728	1.00[EUR][1000 genomes]
rs4669732	1.00[EUR][1000 genomes]
rs4669734	1.00[EUR][1000 genomes]
rs56273175	1.00[EUR][1000 genomes]
rs56352405	1.00[EUR][1000 genomes]
rs56820808	1.00[EUR][1000 genomes]
rs56834951	1.00[EUR][1000 genomes]
rs57251854	1.00[EUR][1000 genomes]
rs58477298	1.00[EUR][1000 genomes]
rs58686966	1.00[EUR][1000 genomes]
rs58819315	1.00[EUR][1000 genomes]
rs59157966	1.00[EUR][1000 genomes]
rs59416046	1.00[EUR][1000 genomes]
rs59554925	1.00[EUR][1000 genomes]
rs59836200	1.00[EUR][1000 genomes]
rs60798771	1.00[EUR][1000 genomes]
rs61091666	1.00[EUR][1000 genomes]
rs61358269	1.00[EUR][1000 genomes]
rs61382095	1.00[EUR][1000 genomes]
rs6432204	1.00[EUR][1000 genomes]
rs6432205	1.00[EUR][1000 genomes]
rs6432206	1.00[EUR][1000 genomes]
rs6432217	1.00[CEU][hapmap]
rs6432218	1.00[CEU][hapmap]
rs6710070	1.00[EUR][1000 genomes]
rs6712902	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6739988	1.00[CEU][hapmap]
rs6740248	1.00[CEU][hapmap]
rs6744817	1.00[CEU][hapmap]
rs6745921	1.00[CEU][hapmap]
rs6757729	1.00[CEU][hapmap]
rs73180141	1.00[EUR][1000 genomes]
rs73185109	1.00[EUR][1000 genomes]
rs73915200	1.00[EUR][1000 genomes]
rs73915202	1.00[EUR][1000 genomes]
rs73917104	1.00[EUR][1000 genomes]
rs73917107	1.00[EUR][1000 genomes]
rs73917203	1.00[EUR][1000 genomes]
rs73917206	1.00[EUR][1000 genomes]
rs73917207	1.00[EUR][1000 genomes]
rs7559230	1.00[EUR][1000 genomes]
rs7562399	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7565382	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7585718	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7598673	1.00[EUR][1000 genomes]
rs7602962	1.00[EUR][1000 genomes]
rs7608777	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1814335	chr2:11689048-11718858	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
2	chr2:11694800-11755200	Weak transcription	Gastric	stomach
3	chr2:11697000-11722600	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:11697000-11723000	Weak transcription	Brain Anterior Caudate	brain
5	chr2:11697000-11723200	Weak transcription	Brain Angular Gyrus	brain
6	chr2:11699800-11718400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:11699800-11723000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:11700000-11767000	Weak transcription	Right Atrium	heart
9	chr2:11700200-11723000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:11700400-11718400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:11702800-11720200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:11702800-11722400	Strong transcription	HepG2	liver
13	chr2:11703000-11717400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:11704000-11720600	Weak transcription	Fetal Heart	heart
15	chr2:11705600-11714600	Weak transcription	Psoas Muscle	Psoas
16	chr2:11707000-11715400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:11707200-11720600	Weak transcription	Brain Substantia Nigra	brain
18	chr2:11707800-11722200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:11708800-11718800	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:11709000-11716600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:11709800-11724200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:11710000-11722600	Weak transcription	Pancreas	Pancrea
23	chr2:11711200-11719000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:11711600-11717400	Weak transcription	Lung	lung
25	chr2:11711600-11723200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:11711600-11738600	Weak transcription	Left Ventricle	heart
27	chr2:11711800-11718200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:11712400-11715000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:11712800-11715000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:11713000-11714600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:11713000-11714600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:11713000-11714600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:11713000-11714800	Enhancers	NH-A	brain
34	chr2:11713200-11714600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr2:11713200-11714600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:11713200-11714600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:11713200-11714800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:11713200-11715000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:11713400-11714600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:11713400-11714600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:11713400-11714600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr2:11713400-11715400	Enhancers	Ovary	ovary
43	chr2:11713400-11715600	Enhancers	Fetal Stomach	stomach
44	chr2:11713400-11715800	Enhancers	Stomach Smooth Muscle	stomach
45	chr2:11713600-11714600	Enhancers	Fetal Lung	lung
46	chr2:11713600-11714800	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr2:11713600-11714800	Enhancers	Placenta	Placenta
48	chr2:11713600-11715600	Enhancers	Colon Smooth Muscle	Colon
49	chr2:11714000-11714800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:11714200-11714800	Enhancers	Rectal Smooth Muscle	rectum

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