Variant report

Variant	rs73193215
Chromosome Location	chr2:11719849-11719850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11714285..11716170-chr2:11718112..11720675,2	K562	blood:
2	chr2:11269743..11271630-chr2:11718749..11720489,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs13421766	1.00[ASN][1000 genomes]
rs7585718	1.00[ASN][1000 genomes]

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	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

No data

Chromatin state (count:44 , 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	chr2:11699800-11723000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:11700000-11767000	Weak transcription	Right Atrium	heart
8	chr2:11700200-11723000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:11702800-11720200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:11702800-11722400	Strong transcription	HepG2	liver
11	chr2:11704000-11720600	Weak transcription	Fetal Heart	heart
12	chr2:11707200-11720600	Weak transcription	Brain Substantia Nigra	brain
13	chr2:11707800-11722200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:11709800-11724200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:11710000-11722600	Weak transcription	Pancreas	Pancrea
16	chr2:11711600-11723200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:11711600-11738600	Weak transcription	Left Ventricle	heart
18	chr2:11714400-11765000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:11714600-11720400	Weak transcription	Fetal Lung	lung
20	chr2:11714600-11722800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:11715600-11720600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:11715600-11722200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:11716600-11720800	Strong transcription	Fetal Muscle Trunk	muscle
24	chr2:11716600-11722000	Strong transcription	Fetal Stomach	stomach
25	chr2:11716600-11722400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:11716600-11722400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:11717000-11721400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:11717200-11722000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:11717600-11767000	Weak transcription	Fetal Intestine Small	intestine
30	chr2:11719000-11720000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:11719000-11721200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:11719000-11722800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:11719000-11723000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr2:11719000-11723000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:11719200-11721000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:11719200-11725800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:11719200-11738000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr2:11719400-11720400	Strong transcription	Ovary	ovary
39	chr2:11719400-11750800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:11719600-11720000	Genic enhancers	Fetal Muscle Leg	muscle
41	chr2:11719600-11720200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:11719800-11722200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:11719800-11722600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:11719800-11723000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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