Variant report

Variant	rs7682168
Chromosome Location	chr4:129211137-129211138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:129210716-129211280	Raji	blood:	n/a	n/a
2	POLR2A	chr4:129210809-129211158	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:129210670-129211743	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr4:129210735-129211250	K562	blood:	n/a	n/a
5	POLR2A	chr4:129208743-129211434	K562	blood:	n/a	n/a
6	MAZ	chr4:129210630-129211338	K562	blood:	n/a	n/a
7	MAX	chr4:129210958-129211452	K562	blood:	n/a	n/a
8	TEAD4	chr4:129210572-129211290	K562	blood:	n/a	n/a
9	MXI1	chr4:129210748-129211209	K562	blood:	n/a	n/a
10	POLR2A	chr4:129208736-129211750	K562	blood:	n/a	n/a
11	POLR2A	chr4:129210606-129211309	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr4:129208743-129211314	K562	blood:	n/a	n/a
13	MYC	chr4:129210575-129211467	K562	blood:	n/a	n/a
14	POLR2A	chr4:129210651-129211338	K562	blood:	n/a	n/a
15	RCOR1	chr4:129210763-129211309	K562	blood:	n/a	n/a
16	JUN	chr4:129208721-129212039	K562	blood:	n/a	chr4:129211841-129211848 chr4:129211616-129211625 chr4:129211839-129211850
17	POLR2A	chr4:129208774-129211381	PBDE	blood:	n/a	n/a
18	POLR2A	chr4:129210667-129211170	K562	blood:	n/a	n/a
19	USF2	chr4:129211016-129211236	K562	blood:	n/a	n/a
20	CUX1	chr4:129210676-129211229	K562	blood:	n/a	n/a
21	POLR2A	chr4:129211132-129211147	MCF10A-Er-Src	breast:	n/a	n/a
22	TBP	chr4:129210655-129211242	K562	blood:	n/a	n/a
23	GATA1	chr4:129210460-129211244	PBDE	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:129209990..129212940-chr4:129306531..129308783,2	MCF-7	breast:
2	chr4:129209335..129213237-chr4:129730288..129733311,3	K562	blood:
3	chr4:129210091..129212113-chr4:129221038..129223141,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LARP1B-1	chr4:129209986-129214460	NONHSAT098262

No data

Variant related genes	Relation type
ENSG00000251432	TF binding region
PGRMC2	TF binding region
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10001857	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12509379	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12647536	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733260	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3796500	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41300367	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4975198	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6816322	0.89[ASN][1000 genomes]
rs7677888	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7680523	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7681053	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7681074	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9683654	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129210000-129224400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:129210200-129211200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr4:129210200-129211400	Enhancers	Small Intestine	intestine
4	chr4:129210200-129212600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:129210200-129216400	Weak transcription	Spleen	Spleen
6	chr4:129210200-129228600	Weak transcription	Left Ventricle	heart
7	chr4:129210200-129230400	Weak transcription	Ovary	ovary
8	chr4:129210200-129245800	Weak transcription	Esophagus	oesophagus
9	chr4:129210400-129211200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:129210400-129211200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr4:129210400-129211200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:129210400-129211200	Enhancers	Placenta	Placenta
13	chr4:129210400-129212600	Weak transcription	HSMM	muscle
14	chr4:129210400-129213400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:129210400-129213400	Weak transcription	Liver	Liver
16	chr4:129210400-129215600	Weak transcription	Stomach Mucosa	stomach
17	chr4:129210400-129215800	Weak transcription	Adipose Nuclei	Adipose
18	chr4:129210400-129216400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:129210400-129217600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:129210400-129218000	Weak transcription	Fetal Intestine Small	intestine
21	chr4:129210400-129218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:129210400-129222400	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:129210400-129226200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:129210400-129227200	Weak transcription	Pancreas	Pancrea
25	chr4:129210400-129227800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:129210400-129231000	Weak transcription	HSMMtube	muscle
27	chr4:129210400-129231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:129210400-129235800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:129210400-129238000	Weak transcription	Thymus	Thymus
30	chr4:129210400-129240000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:129210400-129246400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr4:129210400-129247600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr4:129210600-129211200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr4:129210600-129211200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr4:129210600-129212200	Weak transcription	HMEC	breast
36	chr4:129210600-129212200	Flanking Active TSS	K562	blood
37	chr4:129210600-129213400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:129210600-129215600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:129210600-129218000	Weak transcription	Primary B cells from cord blood	blood
40	chr4:129210600-129222800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:129210600-129231000	Weak transcription	Osteobl	bone
42	chr4:129210600-129249800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr4:129210800-129211200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:129210800-129211200	Enhancers	Duodenum Mucosa	Duodenum
45	chr4:129210800-129211200	Enhancers	Fetal Heart	heart
46	chr4:129210800-129211400	Enhancers	A549	lung
47	chr4:129210800-129211800	Weak transcription	NHEK	skin
48	chr4:129210800-129214200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:129210800-129219400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:129210800-129221200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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