Variant report

Variant	rs4947837
Chromosome Location	chr7:50815711-50815712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:50815531-50815837	K562	blood:	n/a	n/a
2	POLR2A	chr7:50815420-50815775	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:50814013-50816119	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:50815700-50815750	MCF10A-Er-Src	breast:	n/a
2	chr7:50815700-50815750	NHDF-neo	bronchial:	n/a
3	chr7:50815700-50815750	RPTEC	kidney:	n/a
4	chr7:50815700-50815750	HCT-116	colon:	n/a
5	chr7:50815700-50815750	AG09319	gingival:	n/a
6	chr7:50815700-50815750	AoSMC	blood vessel:	n/a
7	chr7:50815700-50815750	HCM	heart:	n/a
8	chr7:50815700-50815750	SAEC	small airway:	n/a
9	chr7:50815700-50815750	HRCEpiC	kidney:	n/a
10	chr7:50815700-50815750	Jurkat	blood:	n/a
11	chr7:50815700-50815750	HRPEpiC	eye:	n/a
12	chr7:50815700-50815750	GM12878	blood:	n/a
13	chr7:50815700-50815750	Hela-S3	cervix:	n/a
14	chr7:50815700-50815750	HEEpiC	esophagus:	n/a
15	chr7:50815700-50815750	CMK	blood:	n/a
16	chr7:50815700-50815750	PANC-1	pancreas:	n/a
17	chr7:50815700-50815750	HUVEC	blood vessel:	n/a
18	chr7:50815700-50815750	HPAEpiC	pulmonary alveolar:	n/a
19	chr7:50815700-50815750	HIPEpiC	eye:	n/a
20	chr7:50815700-50815750	AG10803	skin:	n/a
21	chr7:50815700-50815750	IMR90	lung:	fetal
22	chr7:50815700-50815750	AG09309	skin:	n/a
23	chr7:50815700-50815750	K562	blood:	n/a
24	chr7:50815700-50815750	GM12892	blood:	n/a
25	chr7:50815700-50815750	Caco-2	colon:	n/a
26	chr7:50815700-50815750	GM12891	blood:	n/a
27	chr7:50815700-50815750	HepG2	liver:	n/a
28	chr7:50815700-50815750	BJ	skin:	n/a
29	chr7:50815700-50815750	SK-N-SH	brain:	n/a
30	chr7:50815700-50815750	HAEpiC	amniotic membrane:	n/a
31	chr7:50815700-50815750	SK-N-SH_RA	brain:	n/a
32	chr7:50815700-50815750	ProgFib	skin:	n/a
33	chr7:50815700-50815750	SK-N-MC	brain:	n/a
34	chr7:50815700-50815750	AG04449	skin:	fetal
35	chr7:50815700-50815750	NHBE	bronchial:	n/a
36	chr7:50815700-50815750	AG04450	lung:	fetal
37	chr7:50815700-50815750	MCF-7	breast:	n/a
38	chr7:50815700-50815750	PFSK-1	brain:	n/a
39	chr7:50815700-50815750	NH-A	brain:	n/a
40	chr7:50815700-50815750	HMEC	breast:	n/a
41	chr7:50815700-50815750	U87	brain:	n/a
42	chr7:50815700-50815750	HEK293	kidney:	embryo
43	chr7:50815700-50815750	H1-hESC	embryonic stem cell:	embryo
44	chr7:50815700-50815750	LNCaP	prostate:	n/a
45	chr7:50815700-50815750	NT2-D1	testis:	n/a
46	chr7:50815700-50815750	PrEC	prostate:	n/a
47	chr7:50815700-50815750	A549	lung:	n/a
48	chr7:50815700-50815750	HRE	kidney:	n/a
49	chr7:50815700-50815750	ovcar-3	ovarian:	n/a
50	chr7:50815700-50815750	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50814324..50816744-chr7:50859392..50862105,3	K562	blood:

No data

Variant related genes	Relation type
GRB10	TF binding region
GRB10	CpG island
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1004402	0.85[EUR][1000 genomes]
rs1019002	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216232	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1024532	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1548609	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2011899	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2108350	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190501	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2190503	0.81[EUR][1000 genomes]
rs2237469	0.80[EUR][1000 genomes]
rs2237481	0.84[EUR][1000 genomes]
rs2237488	0.85[EUR][1000 genomes]
rs2301926	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2301927	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2329492	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529400	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2529404	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2529407	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2529409	0.85[EUR][1000 genomes]
rs2715102	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2715105	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2715118	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2715125	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2715128	0.80[EUR][1000 genomes]
rs2715134	0.85[EUR][1000 genomes]
rs3800999	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947432	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4947444	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947446	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947804	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947835	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947836	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947866	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4947886	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947890	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4947891	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6593140	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593142	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945302	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973119	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978627	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757775	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783329	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7788180	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7791286	0.84[CEU][hapmap]
rs886821	0.83[EUR][1000 genomes]
rs962508	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977791	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs990358	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50788000-50816000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:50798600-50822600	Weak transcription	Ovary	ovary
3	chr7:50798800-50824800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:50798800-50832400	Weak transcription	HSMM	muscle
5	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
6	chr7:50799000-50817400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:50799000-50823000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:50802600-50824000	Weak transcription	NH-A	brain
9	chr7:50807600-50821800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr7:50807800-50821800	Weak transcription	Esophagus	oesophagus
11	chr7:50807800-50834800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:50808000-50816000	Weak transcription	HepG2	liver
13	chr7:50808000-50817600	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:50808000-50818400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:50808000-50818600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:50808000-50821200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:50808000-50821600	Weak transcription	Gastric	stomach
18	chr7:50808000-50827200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:50808000-50829400	Weak transcription	Small Intestine	intestine
20	chr7:50808000-50832400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:50808000-50835800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr7:50808200-50818800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:50808200-50834200	Weak transcription	Brain Angular Gyrus	brain
24	chr7:50808600-50818800	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:50809000-50821400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:50809400-50822200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:50810800-50821200	Weak transcription	Primary T cells from cord blood	blood
28	chr7:50810800-50829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:50810800-50829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:50811000-50818800	Weak transcription	Brain Substantia Nigra	brain
31	chr7:50811000-50829400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:50811400-50816800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:50811400-50818800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:50811400-50821600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr7:50811600-50821000	Weak transcription	Fetal Intestine Large	intestine
36	chr7:50811800-50820600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:50812000-50818200	Weak transcription	Psoas Muscle	Psoas
38	chr7:50812200-50822600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:50812600-50828200	Weak transcription	K562	blood
40	chr7:50812600-50829400	Weak transcription	NHDF-Ad	bronchial
41	chr7:50812800-50821200	Weak transcription	Osteobl	bone
42	chr7:50813200-50816800	Strong transcription	Hela-S3	cervix
43	chr7:50813600-50815800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:50813600-50816200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:50813600-50816200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:50813600-50816600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:50813800-50824600	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:50814200-50816200	Genic enhancers	Pancreas	Pancrea
49	chr7:50814200-50816200	Enhancers	Right Atrium	heart
50	chr7:50814200-50816400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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