Variant report

Variant	rs11174650
Chromosome Location	chr12:63179929-63179930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62995348..62998836-chr12:63178940..63181391,3	K562	blood:
2	chr12:62995008..63000778-chr12:63178750..63184772,7	MCF-7	breast:
3	chr12:62995127..63000683-chr12:63174450..63183073,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221949	Chromatin interaction
ENSG00000257354	Chromatin interaction
ENSG00000199179	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10506448	1.00[GIH][hapmap]
rs10506450	1.00[GIH][hapmap]
rs10877914	1.00[GIH][hapmap]
rs10877920	1.00[GIH][hapmap]
rs11174649	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11174651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11174663	1.00[GIH][hapmap]
rs11174669	0.84[AMR][1000 genomes]
rs11174689	1.00[CHB][hapmap]
rs11615499	1.00[GIH][hapmap]
rs11615624	1.00[ASW][hapmap]
rs17120377	1.00[GIH][hapmap]
rs17735307	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11174650	FAM119B	cis	parietal	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63161400-63180000	Weak transcription	Aorta	Aorta
2	chr12:63165600-63182000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:63168200-63180000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:63171400-63180000	Weak transcription	Colonic Mucosa	Colon
5	chr12:63171400-63180000	Weak transcription	Fetal Intestine Large	intestine
6	chr12:63174800-63182800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:63175200-63193600	Weak transcription	Gastric	stomach
8	chr12:63175200-63206800	Weak transcription	Pancreas	Pancrea
9	chr12:63175400-63180000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:63175600-63180000	Weak transcription	Fetal Intestine Small	intestine
11	chr12:63176600-63180200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:63177000-63182600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:63177400-63181600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:63177800-63180600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:63177800-63181800	Enhancers	NH-A	brain
16	chr12:63178000-63180000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:63178000-63185400	Weak transcription	Fetal Brain Male	brain
18	chr12:63178200-63180000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr12:63178200-63180000	Weak transcription	Lung	lung
20	chr12:63178200-63180000	Weak transcription	Right Atrium	heart
21	chr12:63178200-63180400	Weak transcription	Brain Anterior Caudate	brain
22	chr12:63178200-63180800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:63178200-63187000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:63178400-63182400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:63178400-63186200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:63178400-63192400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:63178600-63186200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:63178800-63180000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:63178800-63182200	Weak transcription	Brain Substantia Nigra	brain
30	chr12:63179000-63181000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:63179200-63180400	Flanking Active TSS	A549	lung
32	chr12:63179200-63181600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:63179200-63182200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:63179200-63182400	Enhancers	Osteobl	bone
35	chr12:63179200-63182600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:63179400-63180000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr12:63179400-63180000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr12:63179400-63180400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:63179400-63180400	Enhancers	Brain Angular Gyrus	brain
40	chr12:63179400-63180400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:63179400-63180400	Enhancers	Fetal Thymus	thymus
42	chr12:63179400-63180400	Flanking Active TSS	Hela-S3	cervix
43	chr12:63179400-63180600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr12:63179400-63180600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:63179400-63180600	Enhancers	Left Ventricle	heart
46	chr12:63179400-63181000	Enhancers	Fetal Muscle Trunk	muscle
47	chr12:63179400-63181200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:63179400-63181200	Enhancers	Primary B cells from cord blood	blood
49	chr12:63179400-63181200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:63179400-63181600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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