Variant report

Variant	rs7591623
Chromosome Location	chr2:33366733-33366734
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33363634..33367831-chr2:33371387..33375003,3	K562	blood:
2	chr2:33360698..33363585-chr2:33365349..33368333,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11903420	1.00[EUR][1000 genomes]
rs13398513	1.00[EUR][1000 genomes]
rs13413448	1.00[EUR][1000 genomes]
rs13417676	1.00[EUR][1000 genomes]
rs41470344	1.00[EUR][1000 genomes]
rs6745742	0.83[YRI][hapmap]
rs72855711	1.00[EUR][1000 genomes]
rs7584658	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	3 gene(s)	inside rSNPs	diseases
6	nsv1012946	chr2:33294522-33370391	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv535626	chr2:33294522-33370391	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv873789	chr2:33297967-33390188	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33358800-33371600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33360000-33367400	Weak transcription	Lung	lung
3	chr2:33360000-33373000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:33360000-33378400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:33360200-33372600	Weak transcription	Liver	Liver
6	chr2:33360200-33385800	Weak transcription	Placenta	Placenta
7	chr2:33361200-33367400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:33361800-33367400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:33362000-33367800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:33362000-33368400	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:33362200-33367800	Weak transcription	Brain Anterior Caudate	brain
12	chr2:33362600-33382400	Weak transcription	HUVEC	blood vessel
13	chr2:33363000-33368400	Enhancers	Fetal Heart	heart
14	chr2:33363200-33367600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:33363200-33367600	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:33363200-33368000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:33363200-33371200	Weak transcription	Ovary	ovary
18	chr2:33363400-33367600	Weak transcription	Psoas Muscle	Psoas
19	chr2:33363400-33368600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:33364600-33369600	Genic enhancers	Muscle Satellite Cultured Cells	--
21	chr2:33364800-33368200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:33365000-33367600	Weak transcription	Right Atrium	heart
23	chr2:33365200-33367400	Weak transcription	Fetal Stomach	stomach
24	chr2:33365400-33366800	Weak transcription	Right Ventricle	heart
25	chr2:33365400-33366800	Genic enhancers	Osteobl	bone
26	chr2:33365400-33367600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:33365400-33369000	Weak transcription	Aorta	Aorta
28	chr2:33365400-33369200	Weak transcription	NHDF-Ad	bronchial
29	chr2:33365400-33370800	Weak transcription	HSMMtube	muscle
30	chr2:33365400-33371200	Weak transcription	NH-A	brain
31	chr2:33365600-33367400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:33365600-33367800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:33365600-33368200	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:33365600-33375400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:33366000-33366800	Enhancers	K562	blood
36	chr2:33366000-33366800	Genic enhancers	NHLF	lung
37	chr2:33366000-33367400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:33366200-33366800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:33366200-33367000	Enhancers	Fetal Lung	lung
40	chr2:33366200-33367400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:33366200-33367400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:33366200-33369600	Enhancers	Left Ventricle	heart
43	chr2:33366400-33368000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:33366600-33366800	Enhancers	Fetal Brain Male	brain
45	chr2:33366600-33367200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:33366600-33368800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:33366600-33369600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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