Variant report

Variant	rs4853707
Chromosome Location	chr2:191299996-191299997
allele	G/T
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	RCOR1	chr2:191299879-191300105	K562	blood:	n/a	n/a
2	SPI1	chr2:191299944-191300509	HL-60	blood:	n/a	chr2:191300212-191300225 chr2:191300214-191300221 chr2:191300213-191300222

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191272728..191274553-chr2:191298568..191301564,2	MCF-7	breast:

Variant related genes	Relation type
MFSD6	TF binding region
ENSG00000151690	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11683734	1.00[ASN][1000 genomes]
rs11687958	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11688236	1.00[ASN][1000 genomes]
rs11695439	0.91[YRI][hapmap]
rs12105680	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832766	0.83[GIH][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs17745140	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736620	1.00[ASN][1000 genomes]
rs4146925	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs4241290	0.88[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4303742	1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs4340551	1.00[ASN][1000 genomes]
rs4434029	1.00[ASN][1000 genomes]
rs4468843	1.00[ASN][1000 genomes]
rs4513326	1.00[ASN][1000 genomes]
rs4536676	1.00[GIH][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs4585059	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs4853511	1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs4853704	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5004460	1.00[ASN][1000 genomes]
rs55942739	1.00[ASN][1000 genomes]
rs56101840	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278738	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434392	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs6434398	1.00[ASN][1000 genomes]
rs6707244	1.00[ASN][1000 genomes]
rs6725814	0.81[LWK][hapmap]
rs6728161	1.00[ASN][1000 genomes]
rs6736474	1.00[ASN][1000 genomes]
rs6744546	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755804	1.00[ASN][1000 genomes]
rs7570284	1.00[ASN][1000 genomes]
rs7586287	0.88[GIH][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs7595579	1.00[ASN][1000 genomes]
rs7600297	1.00[GIH][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];1.00[ASN][1000 genomes]
rs7603228	1.00[ASN][1000 genomes]
rs7605008	1.00[ASN][1000 genomes]
rs9967833	1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4853707	FAM188B	trans	lymphoblastoid	seeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191273800-191301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:191274800-191300800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:191278600-191301200	Weak transcription	Pancreas	Pancrea
4	chr2:191278800-191300800	Weak transcription	Fetal Thymus	thymus
5	chr2:191278800-191301200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:191279000-191300800	Weak transcription	Esophagus	oesophagus
7	chr2:191279200-191303000	Weak transcription	NHEK	skin
8	chr2:191282800-191301200	Weak transcription	Fetal Brain Male	brain
9	chr2:191283200-191301000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:191284200-191301000	Weak transcription	Gastric	stomach
11	chr2:191284200-191301200	Weak transcription	Right Ventricle	heart
12	chr2:191284200-191311000	Weak transcription	Psoas Muscle	Psoas
13	chr2:191285600-191301000	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:191287000-191300800	Weak transcription	Brain Germinal Matrix	brain
15	chr2:191290400-191301200	Weak transcription	Brain Anterior Caudate	brain
16	chr2:191290800-191300800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:191292200-191300800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:191292200-191301000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:191293200-191301000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:191293200-191301200	Weak transcription	Brain Substantia Nigra	brain
21	chr2:191293200-191301600	Weak transcription	A549	lung
22	chr2:191293400-191300600	Weak transcription	Dnd41	blood
23	chr2:191296400-191300200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr2:191296400-191300400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr2:191296400-191300400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr2:191296400-191300800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:191296600-191300800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:191296800-191300400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:191296800-191300600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:191296800-191311400	Weak transcription	Fetal Lung	lung
31	chr2:191297000-191301200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:191297000-191301200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:191297000-191301600	Weak transcription	Fetal Intestine Small	intestine
34	chr2:191297200-191300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:191297200-191300800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:191297200-191300800	Weak transcription	Colonic Mucosa	Colon
37	chr2:191297200-191300800	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:191297200-191300800	Weak transcription	Thymus	Thymus
39	chr2:191297200-191301000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:191297200-191301200	Weak transcription	Adipose Nuclei	Adipose
41	chr2:191297200-191301200	Weak transcription	Fetal Stomach	stomach
42	chr2:191297200-191301200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:191297200-191306200	Weak transcription	K562	blood
44	chr2:191297400-191300800	Weak transcription	Aorta	Aorta
45	chr2:191297400-191300800	Weak transcription	Fetal Intestine Large	intestine
46	chr2:191297400-191300800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:191297400-191301000	Weak transcription	Left Ventricle	heart
48	chr2:191297400-191301200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:191297400-191301200	Weak transcription	Ovary	ovary
50	chr2:191297400-191301200	Weak transcription	Spleen	Spleen

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