Variant report

Variant	rs144641295
Chromosome Location	chr6:166749810-166749811
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr6:166748789-166749960	GM12878	blood:	n/a	n/a
2	RUNX3	chr6:166748941-166749992	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:166746252-166749844	GM12891	blood:	n/a	n/a
4	ATF2	chr6:166749131-166749929	GM12878	blood:	n/a	n/a
5	BCLAF1	chr6:166749004-166749819	GM12878	blood:	n/a	n/a
6	NFATC1	chr6:166748961-166749951	GM12878	blood:	n/a	n/a
7	ZNF143	chr6:166749281-166749863	GM12878	blood:	n/a	n/a
8	EP300	chr6:166749196-166749973	GM12878	blood:	n/a	n/a
9	RELA	chr6:166748641-166749919	GM12891	blood:	n/a	n/a
10	POLR2A	chr6:166746571-166749863	GM12892	blood:	n/a	n/a
11	POLR2A	chr6:166742700-166754624	K562	blood:	n/a	n/a
12	EP300	chr6:166749284-166749848	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:166746147-166749873	GM12891	blood:	n/a	n/a
14	NFATC1	chr6:166749027-166749948	GM12878	blood:	n/a	n/a
15	RELA	chr6:166749107-166749951	GM18526	blood:	n/a	n/a
16	POLR2A	chr6:166746274-166749904	GM12891	blood:	n/a	n/a
17	POLR2A	chr6:166746206-166754614	GM12878	blood:	n/a	n/a
18	RELA	chr6:166749098-166749822	GM10847	blood:	n/a	n/a
19	RUNX3	chr6:166749126-166749916	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:166745653-166751514	GM12892	blood:	n/a	n/a
21	POLR2A	chr6:166749485-166749842	K562	blood:	n/a	n/a
22	POLR2A	chr6:166745484-166754512	GM12892	blood:	n/a	n/a
23	POLR2A	chr6:166749210-166749846	GM12891	blood:	n/a	n/a
24	RELA	chr6:166749202-166749916	GM19099	blood:	n/a	n/a
25	POLR2A	chr6:166745570-166751783	GM12892	blood:	n/a	n/a
26	YY1	chr6:166749494-166749810	GM12878	blood:	n/a	chr6:166749617-166749639 chr6:166749620-166749628
27	EBF1	chr6:166748924-166749860	GM12878	blood:	n/a	n/a
28	RELA	chr6:166749025-166749911	GM18505	blood:	n/a	n/a
29	POLR2A	chr6:166749590-166749827	K562	blood:	n/a	n/a
30	POLR2A	chr6:166746365-166757465	GM12878	blood:	n/a	n/a
31	ATF2	chr6:166749059-166750047	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:166745466-166757224	GM12878	blood:	n/a	n/a
33	STAT5A	chr6:166749070-166749872	GM12878	blood:	n/a	n/a
34	NFIC	chr6:166748979-166750359	GM12878	blood:	n/a	n/a
35	RELA	chr6:166749005-166750236	GM12878	blood:	n/a	n/a
36	CEBPB	chr6:166748984-166750300	GM12878	blood:	n/a	n/a
37	WRNIP1	chr6:166749065-166750154	GM12878	blood:	n/a	n/a
38	POLR2A	chr6:166745668-166754554	GM12878	blood:	n/a	n/a
39	NFIC	chr6:166749103-166749862	GM12878	blood:	n/a	n/a
40	RELA	chr6:166749008-166749934	GM18951	blood:	n/a	n/a
41	STAT5A	chr6:166749076-166749836	GM12878	blood:	n/a	n/a
42	FOXM1	chr6:166749055-166750253	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:166745300-166754633	GM12891	blood:	n/a	n/a
44	MTA3	chr6:166746591-166750124	GM12878	blood:	n/a	n/a
45	PML	chr6:166748787-166749935	GM12878	blood:	n/a	n/a
46	RELA	chr6:166749216-166749841	GM19193	blood:	n/a	n/a
47	BHLHE40	chr6:166749021-166749933	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166748234..166750279-chr6:166754280..166756518,2	MCF-7	breast:
2	chr6:166748322..166751240-chr6:166751244..166753150,2	MCF-7	breast:

No data

Variant related genes	Relation type
SFT2D1	TF binding region
ENSG00000198818	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv981205	chr6:166748596-166751156	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 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	chr6:166732400-166751600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:166733200-166753600	Weak transcription	Fetal Heart	heart
3	chr6:166733800-166753800	Weak transcription	Hela-S3	cervix
4	chr6:166734600-166754800	Weak transcription	HUVEC	blood vessel
5	chr6:166738200-166754200	Weak transcription	NH-A	brain
6	chr6:166739400-166755400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:166740000-166750800	Weak transcription	HSMMtube	muscle
8	chr6:166741400-166750000	Weak transcription	HMEC	breast
9	chr6:166741400-166752400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:166742200-166751200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:166742600-166754000	Weak transcription	Fetal Kidney	kidney
12	chr6:166742800-166750000	Weak transcription	Colonic Mucosa	Colon
13	chr6:166742800-166751000	Weak transcription	HSMM	muscle
14	chr6:166744400-166750600	Weak transcription	NHLF	lung
15	chr6:166744400-166752000	Weak transcription	Right Atrium	heart
16	chr6:166744400-166754800	Weak transcription	NHDF-Ad	bronchial
17	chr6:166744600-166750400	Weak transcription	Ovary	ovary
18	chr6:166745200-166750400	Weak transcription	Stomach Mucosa	stomach
19	chr6:166745400-166754400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:166745400-166755000	Weak transcription	A549	lung
21	chr6:166745800-166752200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:166746000-166752000	Strong transcription	Fetal Intestine Large	intestine
23	chr6:166746200-166752800	Strong transcription	Fetal Intestine Small	intestine
24	chr6:166746200-166753800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:166746200-166754800	Genic enhancers	Primary B cells from peripheral blood	blood
26	chr6:166746400-166752600	Genic enhancers	Spleen	Spleen
27	chr6:166746600-166750400	Weak transcription	Brain Anterior Caudate	brain
28	chr6:166746600-166751800	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:166746600-166752400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:166747000-166750000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:166747000-166750000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr6:166747000-166750400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:166747000-166753400	Weak transcription	Fetal Brain Male	brain
34	chr6:166747200-166750000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:166747200-166750000	Weak transcription	Left Ventricle	heart
36	chr6:166747200-166750200	Strong transcription	Fetal Muscle Trunk	muscle
37	chr6:166747200-166750600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:166747200-166751800	Strong transcription	HepG2	liver
39	chr6:166747200-166752000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:166747200-166754600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:166747400-166750200	Weak transcription	Esophagus	oesophagus
42	chr6:166747400-166751400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr6:166747400-166752000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:166747600-166750000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr6:166747600-166750200	Weak transcription	Right Ventricle	heart
46	chr6:166747600-166751400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:166747600-166753000	Strong transcription	Fetal Muscle Leg	muscle
48	chr6:166747600-166753800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr6:166747600-166754000	Strong transcription	Fetal Stomach	stomach
50	chr6:166747800-166750600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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