Variant report

Variant	rs191684698
Chromosome Location	chr2:183628740-183628741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183628146..183628821-chr2:183844437..183845367,4	K562	blood:
2	chr2:183579077..183581279-chr2:183626504..183629491,2	K562	blood:

Variant related genes	Relation type
ENSG00000077232	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv875483	chr2:183537399-183657867	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv3693445	chr2:183542825-183725221	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv10204	chr2:183609768-183639750	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv979155	chr2:183628012-183632674	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183581800-183631000	Weak transcription	Esophagus	oesophagus
2	chr2:183581800-183647600	Weak transcription	Gastric	stomach
3	chr2:183581800-183655600	Weak transcription	Pancreas	Pancrea
4	chr2:183605600-183646000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:183607200-183638800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:183609000-183646600	Weak transcription	Hela-S3	cervix
7	chr2:183610000-183638800	Weak transcription	Lung	lung
8	chr2:183610200-183631400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:183610200-183633200	Weak transcription	Spleen	Spleen
10	chr2:183610200-183639000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:183614400-183631200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:183614400-183632200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:183614400-183632400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:183614400-183633200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:183614400-183633400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:183614400-183633400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr2:183614400-183633800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:183614400-183634200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:183614600-183630000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:183614600-183633200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr2:183614600-183633600	Strong transcription	Fetal Intestine Large	intestine
22	chr2:183614600-183633600	Strong transcription	Dnd41	blood
23	chr2:183614600-183633800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:183614600-183634000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:183614600-183634000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr2:183614800-183632200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:183615200-183633400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:183615200-183633600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:183616200-183630800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr2:183618600-183629000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr2:183618600-183631200	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr2:183618600-183631200	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:183619000-183633400	Strong transcription	Primary B cells from cord blood	blood
34	chr2:183619400-183633600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr2:183619400-183633800	Strong transcription	Primary T cells from cord blood	blood
36	chr2:183619600-183633600	Strong transcription	NH-A	brain
37	chr2:183619800-183630400	Strong transcription	HUVEC	blood vessel
38	chr2:183620200-183633400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:183620400-183634000	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:183620800-183633600	Strong transcription	Fetal Thymus	thymus
41	chr2:183621000-183629200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:183621000-183631000	Strong transcription	NHLF	lung
43	chr2:183621600-183631600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:183621800-183629200	Strong transcription	K562	blood
45	chr2:183621800-183629600	Strong transcription	NHEK	skin
46	chr2:183622400-183633800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:183622600-183630200	Strong transcription	GM12878-XiMat	blood
48	chr2:183622600-183633800	Strong transcription	Fetal Muscle Leg	muscle
49	chr2:183622800-183633800	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:183623200-183639000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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