Variant report

Variant	rs7623218
Chromosome Location	chr3:136072417-136072418
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136069906..136072188-chr3:136072294..136075006,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11923910	1.00[AFR][1000 genomes]
rs16843739	0.90[LWK][hapmap];1.00[MKK][hapmap]
rs59805051	1.00[AFR][1000 genomes]
rs6765839	1.00[YRI][hapmap]
rs72987432	1.00[AFR][1000 genomes]
rs72987439	1.00[AFR][1000 genomes]
rs72987450	0.95[AFR][1000 genomes]
rs72987454	0.95[AFR][1000 genomes]
rs72987473	1.00[AFR][1000 genomes]
rs72987483	0.89[AFR][1000 genomes]
rs7625516	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

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	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv877519	chr3:136035737-136279390	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv877520	chr3:136056861-136310985	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv877521	chr3:136069286-136310985	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7623218	BAMBI	trans	lymphoblastoid	seeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136042400-136078800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr3:136042600-136072600	Strong transcription	Dnd41	blood
3	chr3:136043400-136098600	Weak transcription	Fetal Brain Male	brain
4	chr3:136043600-136082000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:136045600-136079200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:136047600-136098000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr3:136047800-136074800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:136054200-136085400	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:136054600-136074200	Weak transcription	Brain Angular Gyrus	brain
10	chr3:136054600-136172000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:136054800-136076600	Weak transcription	Brain Substantia Nigra	brain
12	chr3:136055600-136073400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:136055600-136100800	Weak transcription	Spleen	Spleen
14	chr3:136059600-136079000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:136061800-136074200	Weak transcription	Brain Germinal Matrix	brain
16	chr3:136063400-136073800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:136063400-136139000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr3:136063400-136139000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:136063600-136097000	Weak transcription	Colonic Mucosa	Colon
20	chr3:136063600-136105600	Weak transcription	Gastric	stomach
21	chr3:136063600-136110600	Weak transcription	Small Intestine	intestine
22	chr3:136063600-136139200	Weak transcription	Pancreas	Pancrea
23	chr3:136063800-136095200	Weak transcription	Lung	lung
24	chr3:136065400-136097200	Weak transcription	HepG2	liver
25	chr3:136067600-136074600	Weak transcription	Fetal Intestine Large	intestine
26	chr3:136067600-136109000	Weak transcription	HUVEC	blood vessel
27	chr3:136068200-136074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:136068200-136075200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:136068400-136074400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:136068400-136074800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:136068400-136075000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr3:136068400-136076400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:136068400-136076800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr3:136068400-136083800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr3:136068400-136085000	Weak transcription	Fetal Kidney	kidney
36	chr3:136068600-136074400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:136068600-136103800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr3:136068800-136074800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr3:136069000-136073000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr3:136069200-136079000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr3:136069400-136075000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:136069400-136083800	Weak transcription	Adipose Nuclei	Adipose
43	chr3:136069400-136121200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr3:136069600-136074800	Weak transcription	Fetal Intestine Small	intestine
45	chr3:136069600-136074800	Weak transcription	Ovary	ovary
46	chr3:136069600-136080400	Weak transcription	Esophagus	oesophagus
47	chr3:136069600-136087000	Weak transcription	Hela-S3	cervix
48	chr3:136069600-136107400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr3:136069600-136138800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr3:136069600-136139400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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