Variant report

Variant	rs6719013
Chromosome Location	chr2:36717790-36717791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36712172..36714860-chr2:36716725..36718248,2	K562	blood:
2	chr2:36704675..36707940-chr2:36716381..36719591,3	MCF-7	breast:
3	chr2:36716629..36720213-chr2:36727612..36730787,3	MCF-7	breast:
4	chr2:36717130..36719655-chr2:36721302..36723135,2	K562	blood:
5	chr2:36715749..36718630-chr2:36721034..36723135,2	K562	blood:

Variant related genes	Relation type
ENSG00000150938	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72866823	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72866842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924843	0.98[AFR][1000 genomes];1.00[AMR][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	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36688600-36725600	Weak transcription	Small Intestine	intestine
2	chr2:36704800-36736200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:36705000-36743200	Weak transcription	Brain Germinal Matrix	brain
4	chr2:36707000-36740600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:36708600-36739000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:36708800-36720800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:36708800-36726000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:36709000-36719600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:36709200-36726800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:36709200-36727200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:36709200-36739000	Weak transcription	Colonic Mucosa	Colon
12	chr2:36709400-36726600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:36709400-36726800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:36709400-36726800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:36710000-36743400	Weak transcription	Primary T cells from cord blood	blood
16	chr2:36710400-36726600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:36711200-36726600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:36711400-36726400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:36711400-36726400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:36711400-36726600	Weak transcription	Esophagus	oesophagus
21	chr2:36711400-36739200	Weak transcription	Primary B cells from cord blood	blood
22	chr2:36711600-36726800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:36711800-36726400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:36712000-36720000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:36712000-36726400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:36712000-36726400	Weak transcription	Spleen	Spleen
27	chr2:36712000-36726600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:36712000-36726600	Weak transcription	Gastric	stomach
29	chr2:36712400-36718400	Enhancers	HSMMtube	muscle
30	chr2:36712600-36726400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:36712600-36727000	Weak transcription	Right Ventricle	heart
32	chr2:36712800-36719600	Weak transcription	Brain Anterior Caudate	brain
33	chr2:36712800-36726400	Weak transcription	Fetal Brain Female	brain
34	chr2:36712800-36726800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:36713000-36721800	Weak transcription	Fetal Intestine Large	intestine
36	chr2:36713000-36726400	Weak transcription	Left Ventricle	heart
37	chr2:36713000-36733200	Weak transcription	Pancreas	Pancrea
38	chr2:36713600-36726600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:36713600-36739200	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:36713800-36726600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:36713800-36726600	Weak transcription	Ovary	ovary
42	chr2:36713800-36733200	Weak transcription	Stomach Mucosa	stomach
43	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr2:36714000-36720200	Genic enhancers	HSMM	muscle
45	chr2:36714000-36720400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:36714000-36720600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:36714000-36720800	Genic enhancers	Osteobl	bone
48	chr2:36714000-36722200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:36714400-36720800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:36714400-36720800	Genic enhancers	Muscle Satellite Cultured Cells	--

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