Variant report

Variant	rs2305503
Chromosome Location	chr2:33500178-33500179
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:33499513-33500268	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
LTBP1	TF binding region

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs190077	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33466600-33500800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
3	chr2:33487000-33509800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:33487800-33502400	Weak transcription	Brain Anterior Caudate	brain
5	chr2:33490600-33515600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:33491800-33502000	Weak transcription	Brain Angular Gyrus	brain
7	chr2:33491800-33504400	Weak transcription	Colonic Mucosa	Colon
8	chr2:33492000-33515800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:33492200-33501000	Weak transcription	Placenta	Placenta
10	chr2:33492200-33516600	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:33492200-33516600	Weak transcription	Brain Substantia Nigra	brain
12	chr2:33492400-33500800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:33492400-33500800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:33492400-33500800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:33492400-33500800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:33492400-33500800	Weak transcription	Esophagus	oesophagus
17	chr2:33492400-33500800	Weak transcription	Pancreas	Pancrea
18	chr2:33492400-33501000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:33492400-33501800	Weak transcription	Lung	lung
20	chr2:33492400-33502000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:33492400-33502000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:33492400-33502000	Weak transcription	Spleen	Spleen
23	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
24	chr2:33492600-33500800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:33492600-33502000	Weak transcription	Ovary	ovary
26	chr2:33492600-33508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:33493400-33502000	Weak transcription	Fetal Brain Male	brain
28	chr2:33493600-33515200	Weak transcription	Fetal Lung	lung
29	chr2:33493800-33503400	Weak transcription	Fetal Brain Female	brain
30	chr2:33493800-33515400	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:33494000-33500200	Weak transcription	HUVEC	blood vessel
32	chr2:33494000-33502000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:33494200-33506200	Weak transcription	Fetal Heart	heart
34	chr2:33494200-33516000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:33494200-33516200	Weak transcription	Fetal Kidney	kidney
36	chr2:33494600-33515200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:33496200-33500200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:33496200-33501000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:33496600-33500800	Weak transcription	A549	lung
40	chr2:33497200-33500200	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr2:33497600-33500800	Weak transcription	NHDF-Ad	bronchial
42	chr2:33497600-33500800	Strong transcription	Osteobl	bone
43	chr2:33497800-33500800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:33497800-33503400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:33499200-33501200	Strong transcription	NHLF	lung
46	chr2:33499200-33508000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:33499400-33502400	Strong transcription	Liver	Liver
48	chr2:33499600-33500400	Enhancers	K562	blood
49	chr2:33499600-33500800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:33499600-33500800	Strong transcription	Fetal Muscle Leg	muscle

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