Variant report

Variant	rs6543703
Chromosome Location	chr2:33502880-33502881
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	chr2:33169785..33172664-chr2:33500827..33503324,2	K562	blood:

Variant related genes	Relation type
ENSG00000206951	Chromatin interaction
ENSG00000049323	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv518285	chr2:33502505-33509219	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
2	chr2:33487000-33509800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:33490600-33515600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:33491800-33504400	Weak transcription	Colonic Mucosa	Colon
5	chr2:33492000-33515800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:33492200-33516600	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:33492200-33516600	Weak transcription	Brain Substantia Nigra	brain
8	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
9	chr2:33492600-33508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:33493600-33515200	Weak transcription	Fetal Lung	lung
11	chr2:33493800-33503400	Weak transcription	Fetal Brain Female	brain
12	chr2:33493800-33515400	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:33494200-33506200	Weak transcription	Fetal Heart	heart
14	chr2:33494200-33516000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:33494200-33516200	Weak transcription	Fetal Kidney	kidney
16	chr2:33494600-33515200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:33497800-33503400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:33499200-33508000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:33500200-33504800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:33500800-33503800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:33501000-33503200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:33501000-33503200	Weak transcription	Gastric	stomach
23	chr2:33501000-33503200	Weak transcription	HMEC	breast
24	chr2:33501200-33505400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:33501200-33505600	Weak transcription	NHLF	lung
26	chr2:33501200-33511000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:33501200-33516400	Weak transcription	Stomach Mucosa	stomach
28	chr2:33501200-33528800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:33501400-33503400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:33501400-33503600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:33501400-33503600	Weak transcription	HSMM	muscle
32	chr2:33501400-33516600	Weak transcription	K562	blood
33	chr2:33501600-33503200	Enhancers	Fetal Muscle Trunk	muscle
34	chr2:33501600-33505400	Strong transcription	NH-A	brain
35	chr2:33501600-33509000	Weak transcription	HUVEC	blood vessel
36	chr2:33501800-33503800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:33501800-33517800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:33502000-33503200	Enhancers	Ovary	ovary
39	chr2:33502000-33504200	Enhancers	Fetal Brain Male	brain
40	chr2:33502400-33504400	Weak transcription	Placenta	Placenta
41	chr2:33502400-33504800	Weak transcription	Liver	Liver
42	chr2:33502400-33505800	Weak transcription	Fetal Stomach	stomach
43	chr2:33502400-33512400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:33502400-33512600	Weak transcription	Lung	lung
45	chr2:33502400-33514000	Strong transcription	Osteobl	bone
46	chr2:33502400-33516000	Weak transcription	Brain Angular Gyrus	brain
47	chr2:33502400-33516600	Weak transcription	Pancreas	Pancrea
48	chr2:33502400-33516600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:33502400-33516800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:33502400-33516800	Weak transcription	Esophagus	oesophagus

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