Variant report

Variant	rs7564191
Chromosome Location	chr2:11716060-11716061
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	chr2:11715076..11717286-chr2:11726720..11729091,2	MCF-7	breast:
4	chr2:11710630..11712541-chr2:11713700..11716597,2	K562	blood:

Variant related genes	Relation type
ENSG00000196208	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10427206	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10495583	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5020877	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs58738000	0.86[ASN][1000 genomes]
rs61039324	0.95[ASN][1000 genomes]
rs6718650	1.00[JPT][hapmap]
rs6745409	1.00[JPT][hapmap]
rs68152859	0.83[ASN][1000 genomes]
rs72772060	0.95[ASN][1000 genomes]
rs73915431	0.95[ASN][1000 genomes]
rs73915432	1.00[ASN][1000 genomes]
rs9784026	1.00[JPT][hapmap]
rs9784028	1.00[JPT][hapmap]

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:45 , 50 per page) page: 1

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	chr2:11707200-11720600	Weak transcription	Brain Substantia Nigra	brain
16	chr2:11707800-11722200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:11708800-11718800	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:11709000-11716600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:11709800-11724200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:11710000-11722600	Weak transcription	Pancreas	Pancrea
21	chr2:11711200-11719000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:11711600-11717400	Weak transcription	Lung	lung
23	chr2:11711600-11723200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:11711600-11738600	Weak transcription	Left Ventricle	heart
25	chr2:11711800-11718200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:11714400-11717200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:11714400-11718200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:11714400-11718200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:11714400-11719000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:11714400-11765000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:11714600-11718200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:11714600-11718200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:11714600-11718400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:11714600-11719600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:11714600-11720400	Weak transcription	Fetal Lung	lung
36	chr2:11714600-11722800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:11714800-11716600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:11715000-11716600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:11715000-11717000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:11715000-11718000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:11715600-11716600	Weak transcription	Fetal Stomach	stomach
42	chr2:11715600-11720600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:11715600-11722200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:11715800-11716600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:11715800-11719000	Strong transcription	Ovary	ovary

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