Variant report

Variant	rs3805116
Chromosome Location	chr7:140713367-140713368
allele	C/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	MXI1	chr7:140713142-140715057	GM12878	blood:	n/a	chr7:140714240-140714249
2	MAFK	chr7:140713210-140715353	K562	blood:	n/a	chr7:140713536-140713547 chr7:140713536-140713551 chr7:140713536-140713547
3	MXI1	chr7:140712802-140715958	SK-N-SH	brain:	n/a	chr7:140714240-140714249
4	EBF1	chr7:140713065-140713431	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:140712642-140715144	K562	blood:	n/a	n/a
6	POLR2A	chr7:140713187-140715243	GM12878	blood:	n/a	n/a
7	EP300	chr7:140713217-140715108	GM12878	blood:	n/a	chr7:140713704-140713718
8	POLR2A	chr7:140712968-140715384	GM12891	blood:	n/a	n/a
9	SMC3	chr7:140711797-140713610	SK-N-SH	brain:	n/a	n/a
10	MAX	chr7:140713245-140713639	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:140712939-140715176	K562	blood:	n/a	n/a
12	POLR2A	chr7:140712970-140713484	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:140712725-140715135	MCF10A-Er-Src	breast:	n/a	n/a
14	IRF1	chr7:140713111-140713522	K562	blood:	n/a	chr7:140713267-140713280 chr7:140713269-140713280 chr7:140713267-140713280 chr7:140713270-140713281 chr7:140713266-140713283 chr7:140713261-140713281 chr7:140713268-140713285 chr7:140713266-140713280 chr7:140713268-140713280 chr7:140713265-140713279 chr7:140713269-140713279 chr7:140713267-140713280
15	POLR2A	chr7:140712661-140715306	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:140713195-140713395	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:140703503..140705840-chr7:140711897..140713642,2	MCF-7	breast:
2	chr7:140713242..140716757-chr7:140770540..140776348,9	MCF-7	breast:
3	chr7:140395386..140400852-chr7:140710628..140716984,11	MCF-7	breast:
4	chr7:140376401..140379049-chr7:140712794..140714370,2	K562	blood:
5	chr7:140376267..140379016-chr7:140712794..140714827,3	K562	blood:
6	chr7:140701133..140705248-chr7:140712773..140716152,4	K562	blood:
7	chr7:140621424..140625828-chr7:140713150..140716057,6	K562	blood:
8	chr7:140509026..140511710-chr7:140712128..140713632,2	K562	blood:
9	chr7:140712784..140717043-chr7:140770770..140775163,8	MCF-7	breast:
10	chr7:140394845..140398499-chr7:140712009..140715919,6	MCF-7	breast:
11	chr7:140712651..140715864-chr7:141348079..141351599,5	MCF-7	breast:
12	chr7:140621424..140625988-chr7:140712136..140716057,7	K562	blood:
13	chr7:140394556..140398514-chr7:140712637..140716961,7	K562	blood:
14	chr7:140394719..140399884-chr7:140712014..140716961,9	K562	blood:

Variant related genes	Relation type
MRPS33	TF binding region
ENSG00000133597	Chromatin interaction
ENSG00000006530	Chromatin interaction
ENSG00000090266	Chromatin interaction
ENSG00000273081	Chromatin interaction
ENSG00000240889	Chromatin interaction
ENSG00000261115	Chromatin interaction
ENSG00000157764	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1044927	1.00[CHB][hapmap]
rs10488098	0.82[JPT][hapmap]
rs10952364	0.82[CHB][hapmap]
rs13234490	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs13236704	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1476816	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs17622717	0.82[JPT][hapmap]
rs17695341	0.82[JPT][hapmap]
rs17695623	0.82[JPT][hapmap]
rs17695995	0.82[JPT][hapmap]
rs38715	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs38720	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs38722	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs38723	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs38726	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs38734	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs38739	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs38740	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4726225	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs488795	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs512509	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs528957	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs557962	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs6464217	0.85[CHB][hapmap]
rs6464260	0.85[JPT][hapmap]
rs6662	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6971577	1.00[CHB][hapmap]
rs7801518	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs7810757	0.82[JPT][hapmap]
rs801127	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs9274	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1026448	chr7:140636599-140716829	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140699600-140713800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:140701400-140713400	Weak transcription	NHLF	lung
3	chr7:140703200-140713800	Weak transcription	Stomach Mucosa	stomach
4	chr7:140703400-140713800	Weak transcription	Gastric	stomach
5	chr7:140703600-140713800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:140703600-140713800	Weak transcription	Lung	lung
7	chr7:140704000-140713800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:140705000-140713600	Weak transcription	NH-A	brain
9	chr7:140705200-140713800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:140705400-140713600	Weak transcription	HUVEC	blood vessel
11	chr7:140706800-140713600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:140707200-140713800	Weak transcription	Small Intestine	intestine
13	chr7:140707400-140713600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:140707400-140713600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:140707600-140713400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:140707600-140713600	Weak transcription	Fetal Brain Male	brain
17	chr7:140707600-140713800	Weak transcription	Aorta	Aorta
18	chr7:140707600-140713800	Weak transcription	Spleen	Spleen
19	chr7:140707800-140713800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:140707800-140713800	Weak transcription	Esophagus	oesophagus
21	chr7:140707800-140713800	Weak transcription	Pancreas	Pancrea
22	chr7:140707800-140714000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:140708000-140713800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:140708200-140713400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:140708400-140713600	Weak transcription	Right Ventricle	heart
26	chr7:140708400-140713800	Weak transcription	Ovary	ovary
27	chr7:140708600-140713400	Weak transcription	Primary B cells from cord blood	blood
28	chr7:140709800-140713600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:140710400-140713400	Weak transcription	Adipose Nuclei	Adipose
30	chr7:140710400-140713400	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:140710400-140713400	Weak transcription	Fetal Stomach	stomach
32	chr7:140710400-140713600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:140710400-140713600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:140710400-140713600	Enhancers	Fetal Intestine Small	intestine
35	chr7:140710400-140713600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr7:140710400-140713800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:140710400-140714000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr7:140710600-140713400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:140710600-140713400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:140710600-140713400	Weak transcription	Brain Anterior Caudate	brain
41	chr7:140710600-140713400	Enhancers	Fetal Intestine Large	intestine
42	chr7:140710600-140713600	Weak transcription	Fetal Lung	lung
43	chr7:140710600-140713600	Weak transcription	Fetal Muscle Leg	muscle
44	chr7:140710600-140713800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:140710600-140713800	Weak transcription	Placenta	Placenta
46	chr7:140710800-140713400	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr7:140710800-140713600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr7:140710800-140713600	Weak transcription	Colonic Mucosa	Colon
49	chr7:140710800-140713600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:140710800-140713600	Weak transcription	Fetal Muscle Trunk	muscle

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