Variant report

Variant	rs4853704
Chromosome Location	chr2:191297447-191297448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr2:191297265-191297619	GM12878	blood:	n/a	n/a
2	BCLAF1	chr2:191297211-191297634	GM12878	blood:	n/a	n/a
3	POU2F2	chr2:191297301-191297576	GM12891	blood:	n/a	n/a
4	RUNX3	chr2:191297190-191297615	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:191297422-191297472	HUVEC	blood vessel:	n/a
2	chr2:191297422-191297472	AoSMC	blood vessel:	n/a
3	chr2:191297422-191297472	ovcar-3	ovarian:	n/a
4	chr2:191297422-191297472	BE2_C	brain:	n/a
5	chr2:191297422-191297472	ECC-1	luminal epithelium:	n/a
6	chr2:191297422-191297472	Caco-2	colon:	n/a
7	chr2:191297422-191297472	HRE	kidney:	n/a
8	chr2:191297422-191297472	MCF10A-Er-Src	breast:	n/a
9	chr2:191297422-191297472	SK-N-MC	brain:	n/a
10	chr2:191297422-191297472	NHDF-neo	bronchial:	n/a
11	chr2:191297422-191297472	HEK293	kidney:	embryo
12	chr2:191297422-191297472	GM12878	blood:	n/a
13	chr2:191297422-191297472	GM06990	blood:	n/a
14	chr2:191297422-191297472	AG09319	gingival:	n/a
15	chr2:191297422-191297472	NT2-D1	testis:	n/a
16	chr2:191297422-191297472	BJ	skin:	n/a
17	chr2:191297422-191297472	AG09309	skin:	n/a
18	chr2:191297422-191297472	A549	lung:	n/a
19	chr2:191297422-191297472	K562	blood:	n/a
20	chr2:191297422-191297472	SK-N-SH_RA	brain:	n/a
21	chr2:191297422-191297472	HRPEpiC	eye:	n/a
22	chr2:191297422-191297472	GM19239	blood:	n/a
23	chr2:191297422-191297472	PrEC	prostate:	n/a
24	chr2:191297422-191297472	HRCEpiC	kidney:	n/a
25	chr2:191297422-191297472	GM12892	blood:	n/a
26	chr2:191297422-191297472	U87	brain:	n/a
27	chr2:191297422-191297472	HCM	heart:	n/a
28	chr2:191297422-191297472	HIPEpiC	eye:	n/a
29	chr2:191297422-191297472	HCF	heart:	n/a
30	chr2:191297422-191297472	Jurkat	blood:	n/a
31	chr2:191297422-191297472	RPTEC	kidney:	n/a
32	chr2:191297422-191297472	SKMC	muscle:	n/a
33	chr2:191297422-191297472	AG04449	skin:	fetal
34	chr2:191297422-191297472	SK-N-SH	brain:	n/a
35	chr2:191297422-191297472	Hela-S3	cervix:	n/a
36	chr2:191297422-191297472	HL-60	blood:	n/a
37	chr2:191297422-191297472	MCF-7	breast:	n/a
38	chr2:191297422-191297472	SAEC	small airway:	n/a
39	chr2:191297422-191297472	LNCaP	prostate:	n/a
40	chr2:191297422-191297472	NB4	blood:	n/a
41	chr2:191297422-191297472	HepG2	liver:	n/a
42	chr2:191297422-191297472	HCPEpiC	choroid plexus:	n/a
43	chr2:191297422-191297472	IMR90	lung:	fetal
44	chr2:191297422-191297472	HCT-116	colon:	n/a
45	chr2:191297422-191297472	NHBE	bronchial:	n/a
46	chr2:191297422-191297472	GM12891	blood:	n/a
47	chr2:191297422-191297472	HAEpiC	amniotic membrane:	n/a
48	chr2:191297422-191297472	H1-hESC	embryonic stem cell:	embryo
49	chr2:191297422-191297472	PFSK-1	brain:	n/a
50	chr2:191297422-191297472	PANC-1	pancreas:	n/a

No data

Variant related genes	Relation type
MFSD6	TF binding region
MFSD6	CpG island

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11683734	1.00[ASN][1000 genomes]
rs11687958	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11688236	1.00[ASN][1000 genomes]
rs12105680	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832766	1.00[ASN][1000 genomes]
rs17745140	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736620	1.00[ASN][1000 genomes]
rs4146925	1.00[ASN][1000 genomes]
rs4241290	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4303742	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[ASN][1000 genomes]
rs4585059	1.00[ASN][1000 genomes]
rs4853511	1.00[ASN][1000 genomes]
rs4853706	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853707	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5004460	1.00[ASN][1000 genomes]
rs55942739	1.00[ASN][1000 genomes]
rs56101840	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278738	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434392	1.00[ASN][1000 genomes]
rs6434398	1.00[ASN][1000 genomes]
rs6707244	1.00[ASN][1000 genomes]
rs6728161	1.00[ASN][1000 genomes]
rs6736474	1.00[ASN][1000 genomes]
rs6744546	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755804	1.00[ASN][1000 genomes]
rs7570284	1.00[ASN][1000 genomes]
rs7586287	1.00[ASN][1000 genomes]
rs7595579	1.00[ASN][1000 genomes]
rs7600297	1.00[ASN][1000 genomes]
rs7603228	1.00[ASN][1000 genomes]
rs7605008	1.00[ASN][1000 genomes]
rs9967833	1.00[ASN][1000 genomes]

No data

Chromatin state (count:71 , 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	chr2:191281400-191298600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:191282800-191301200	Weak transcription	Fetal Brain Male	brain
10	chr2:191283200-191301000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:191284200-191301000	Weak transcription	Gastric	stomach
12	chr2:191284200-191301200	Weak transcription	Right Ventricle	heart
13	chr2:191284200-191311000	Weak transcription	Psoas Muscle	Psoas
14	chr2:191285600-191301000	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:191287000-191300800	Weak transcription	Brain Germinal Matrix	brain
16	chr2:191290400-191301200	Weak transcription	Brain Anterior Caudate	brain
17	chr2:191290800-191300800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:191291600-191299800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:191292200-191298600	Weak transcription	Lung	lung
20	chr2:191292200-191299600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:191292200-191300800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:191292200-191301000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:191293200-191299800	Weak transcription	Primary B cells from cord blood	blood
24	chr2:191293200-191301000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:191293200-191301200	Weak transcription	Brain Substantia Nigra	brain
26	chr2:191293200-191301600	Weak transcription	A549	lung
27	chr2:191293400-191300600	Weak transcription	Dnd41	blood
28	chr2:191296200-191298400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr2:191296400-191298400	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr2:191296400-191298800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr2:191296400-191300200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr2:191296400-191300400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr2:191296400-191300400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr2:191296400-191300800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:191296600-191300800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:191296800-191298400	Enhancers	Duodenum Mucosa	Duodenum
37	chr2:191296800-191299000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr2:191296800-191300400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:191296800-191300600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:191296800-191311400	Weak transcription	Fetal Lung	lung
41	chr2:191297000-191301200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:191297000-191301200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:191297000-191301600	Weak transcription	Fetal Intestine Small	intestine
44	chr2:191297200-191297600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:191297200-191297800	Enhancers	GM12878-XiMat	blood
46	chr2:191297200-191298400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:191297200-191298600	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:191297200-191299400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr2:191297200-191300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:191297200-191300800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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