Variant report

Variant	rs6458035
Chromosome Location	chr6:12015296-12015297
allele	A/G
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	POLR2A	chr6:12012916-12015805	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:12007817-12015834	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:12008239-12015396	IMR90	lung:	n/a	n/a
4	POLR2A	chr6:12015205-12015574	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:12012145-12015603	GM12892	blood:	n/a	n/a
6	POLR2A	chr6:12010517-12015551	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:12014901-12015518	GM12892	blood:	n/a	n/a
8	WRNIP1	chr6:12014862-12015376	GM12878	blood:	n/a	n/a
9	RCOR1	chr6:12012868-12015399	IMR90	lung:	n/a	n/a
10	POLR2A	chr6:12012840-12016065	GM12878	blood:	n/a	n/a
11	KAP1	chr6:12013886-12015820	K562	blood:	n/a	n/a
12	POLR2A	chr6:12007580-12016124	GM12878	blood:	n/a	n/a
13	SETDB1	chr6:12014281-12015350	U2OS	brain:	n/a	n/a
14	POLR2A	chr6:12014870-12015304	GM12891	blood:	n/a	n/a
15	POLR2A	chr6:12014832-12015364	GM12891	blood:	n/a	n/a
16	CHD1	chr6:12008145-12015383	IMR90	lung:	n/a	chr6:12011541-12011551 chr6:12013007-12013017 chr6:12013336-12013346
17	POLR2A	chr6:12014852-12015392	GM12891	blood:	n/a	n/a
18	CBX3	chr6:12014088-12015432	K562	blood:	n/a	n/a
19	POLR2A	chr6:12014620-12015601	GM12892	blood:	n/a	n/a
20	POLR2A	chr6:12014114-12015678	GM12892	blood:	n/a	n/a
21	POLR2A	chr6:12012922-12015356	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11918788..11920525-chr6:12013699..12015737,2	K562	blood:

Variant related genes	Relation type
HIVEP1	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4357124	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6916066	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749446	0.84[AFR][1000 genomes]
rs9470751	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[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	nsv970323	chr6:12006884-12020375	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12013800-12015400	Weak transcription	Fetal Thymus	thymus
2	chr6:12013800-12015400	Enhancers	Pancreas	Pancrea
3	chr6:12013800-12016800	Weak transcription	Thymus	Thymus
4	chr6:12013800-12017000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:12013800-12017000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr6:12013800-12017000	Weak transcription	Left Ventricle	heart
7	chr6:12013800-12017000	Weak transcription	Lung	lung
8	chr6:12013800-12017000	Weak transcription	Right Ventricle	heart
9	chr6:12013800-12017000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:12013800-12017000	Weak transcription	Spleen	Spleen
11	chr6:12013800-12017400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:12013800-12017400	Weak transcription	Gastric	stomach
13	chr6:12013800-12018200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:12013800-12033600	Weak transcription	Psoas Muscle	Psoas
15	chr6:12014000-12015800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr6:12014000-12016000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:12014000-12016200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:12014000-12016400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:12014000-12016800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:12014000-12016800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr6:12014000-12017000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:12014000-12017000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:12014000-12017000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr6:12014000-12017000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:12014000-12017000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr6:12014000-12017000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr6:12014000-12017000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr6:12014000-12017400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:12014000-12017400	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:12014000-12020400	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:12014000-12023200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr6:12014000-12023200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:12014000-12031800	Weak transcription	Brain Substantia Nigra	brain
34	chr6:12014200-12015600	Weak transcription	Primary B cells from cord blood	blood
35	chr6:12014200-12015800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr6:12014200-12016800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr6:12014200-12016800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr6:12014200-12016800	Weak transcription	Adipose Nuclei	Adipose
39	chr6:12014200-12017000	Weak transcription	Colonic Mucosa	Colon
40	chr6:12014200-12017000	Weak transcription	Fetal Brain Male	brain
41	chr6:12014200-12017000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr6:12014200-12017000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:12014200-12017000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr6:12014200-12017200	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr6:12014400-12015400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:12014400-12015400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr6:12014400-12015400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr6:12014400-12015400	Enhancers	HMEC	breast
49	chr6:12014400-12015400	Enhancers	NH-A	brain
50	chr6:12014400-12015600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell

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