Variant report

Variant	rs7312175
Chromosome Location	chr12:25404604-25404605
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr12:25403632-25404629	K562	blood:	n/a	n/a
2	TBL1XR1	chr12:25403731-25404672	K562	blood:	n/a	n/a
3	UBTF	chr12:25402930-25404618	K562	blood:	n/a	n/a
4	MXI1	chr12:25403601-25405035	IMR90	lung:	n/a	n/a
5	MAZ	chr12:25403688-25404633	Hela-S3	cervix:	n/a	n/a
6	STAT3	chr12:25404313-25404621	MCF10A-Er-Src	breast:	n/a	n/a
7	BRCA1	chr12:25404506-25404611	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:25403594-25404770	PFSK-1	brain:	n/a	n/a
9	TBP	chr12:25403683-25404696	K562	blood:	n/a	n/a
10	MAX	chr12:25403700-25404717	Hela-S3	cervix:	n/a	n/a
11	STAT3	chr12:25404311-25404618	MCF10A-Er-Src	breast:	n/a	n/a
12	GATA3	chr12:25404253-25404810	MCF-7	breast:	n/a	n/a
13	TAL1	chr12:25403847-25404691	K562	blood:	n/a	n/a
14	MAX	chr12:25403672-25404616	MCF-7	breast:	n/a	n/a
15	MXI1	chr12:25402449-25405297	SK-N-SH	brain:	n/a	n/a
16	RCOR1	chr12:25403690-25404622	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr12:25403590-25404702	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr12:25403560-25404626	K562	blood:	n/a	n/a
19	YY1	chr12:25403379-25404687	SK-N-SH	brain:	n/a	chr12:25403718-25403732 chr12:25403723-25403732 chr12:25404220-25404231 chr12:25403720-25403729 chr12:25403720-25403731
20	TEAD4	chr12:25404292-25404662	K562	blood:	n/a	n/a
21	IRF1	chr12:25403826-25404701	K562	blood:	n/a	chr12:25404187-25404201
22	TEAD4	chr12:25403692-25404805	K562	blood:	n/a	n/a
23	POLR2A	chr12:25403616-25404605	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr12:25403607-25404926	K562	blood:	n/a	n/a
25	GTF2F1	chr12:25404586-25404722	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAZ	chr12:25403729-25404958	HepG2	liver:	n/a	n/a
27	CHD2	chr12:25402828-25404703	Hela-S3	cervix:	n/a	chr12:25404158-25404168 chr12:25404189-25404199
28	MAX	chr12:25403591-25404617	ECC-1	luminal epithelium:	n/a	n/a
29	STAT3	chr12:25404340-25404618	MCF10A-Er-Src	breast:	n/a	n/a
30	KAP1	chr12:25404160-25405326	U2OS	brain:	n/a	n/a
31	POLR2A	chr12:25403135-25404708	K562	blood:	n/a	n/a
32	ARID3A	chr12:25404455-25405099	K562	blood:	n/a	n/a
33	SIN3AK20	chr12:25403620-25404772	MCF-7	breast:	n/a	n/a
34	GATA3	chr12:25403537-25404808	A549	lung:	n/a	n/a
35	MYC	chr12:25403707-25404666	NB4	blood:	n/a	n/a
36	MAX	chr12:25403635-25404745	A549	lung:	n/a	n/a
37	HA-E2F1	chr12:25403710-25404715	MCF-7	breast:	n/a	chr12:25403721-25403731 chr12:25403720-25403729 chr12:25404191-25404200
38	TAF1	chr12:25403596-25404651	H1-hESC	embryonic stem cell:	n/a	n/a
39	JUN	chr12:25403592-25404860	K562	blood:	n/a	chr12:25404307-25404316
40	SIN3AK20	chr12:25403533-25404656	PANC-1	pancreas:	n/a	n/a
41	POLR2A	chr12:25403326-25404670	MCF10A-Er-Src	breast:	n/a	n/a
42	MAX	chr12:25403681-25404666	K562	blood:	n/a	n/a
43	POLR2A	chr12:25403595-25404893	H1-hESC	embryonic stem cell:	n/a	n/a
44	HCFC1	chr12:25403691-25404849	K562	blood:	n/a	n/a
45	RAD21	chr12:25403720-25404662	SK-N-SH_RA	brain:	n/a	chr12:25404193-25404203 chr12:25403910-25403920 chr12:25403910-25403922
46	NFIC	chr12:25403610-25404666	ECC-1	luminal epithelium:	n/a	n/a
47	MYC	chr12:25403742-25404616	K562	blood:	n/a	n/a
48	HCFC1	chr12:25403546-25405373	Hela-S3	cervix:	n/a	n/a
49	CUX1	chr12:25404282-25405000	K562	blood:	n/a	n/a
50	TCF12	chr12:25403553-25404610	A549	lung:	n/a	chr12:25403692-25403699

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:25404568-25404618	CMK	blood:	n/a
2	chr12:25404568-25404618	U87	brain:	n/a
3	chr12:25404568-25404618	SK-N-SH_RA	brain:	n/a
4	chr12:25404596-25404646	HL-60	blood:	n/a
5	chr12:25404568-25404618	HCF	heart:	n/a
6	chr12:25404568-25404618	GM12878	blood:	n/a
7	chr12:25404596-25404646	NHBE	bronchial:	n/a
8	chr12:25404568-25404618	ProgFib	skin:	n/a
9	chr12:25404596-25404646	NHDF-neo	bronchial:	n/a
10	chr12:25404568-25404618	NT2-D1	testis:	n/a
11	chr12:25404596-25404646	T-47D	breast:	n/a
12	chr12:25404568-25404618	ECC-1	luminal epithelium:	n/a
13	chr12:25404596-25404646	SK-N-SH_RA	brain:	n/a
14	chr12:25404568-25404618	GM06990	blood:	n/a
15	chr12:25404596-25404646	NB4	blood:	n/a
16	chr12:25404596-25404646	Caco-2	colon:	n/a
17	chr12:25404596-25404646	SKMC	muscle:	n/a
18	chr12:25404596-25404646	HAEpiC	amniotic membrane:	n/a
19	chr12:25404568-25404618	NB4	blood:	n/a
20	chr12:25404568-25404618	HL-60	blood:	n/a
21	chr12:25404596-25404646	BJ	skin:	n/a
22	chr12:25404596-25404646	GM06990	blood:	n/a
23	chr12:25404596-25404646	ovcar-3	ovarian:	n/a
24	chr12:25404568-25404618	SAEC	small airway:	n/a
25	chr12:25404596-25404646	GM12891	blood:	n/a
26	chr12:25404568-25404618	NHBE	bronchial:	n/a
27	chr12:25404596-25404646	AoSMC	blood vessel:	n/a
28	chr12:25404568-25404618	ovcar-3	ovarian:	n/a
29	chr12:25404596-25404646	H1-hESC	embryonic stem cell:	embryo
30	chr12:25404596-25404646	A549	lung:	n/a
31	chr12:25404568-25404618	H1-hESC	embryonic stem cell:	embryo
32	chr12:25404596-25404646	CMK	blood:	n/a
33	chr12:25404568-25404618	AG09319	gingival:	n/a
34	chr12:25404568-25404618	T-47D	breast:	n/a
35	chr12:25404596-25404646	SAEC	small airway:	n/a
36	chr12:25404568-25404618	AG04449	skin:	fetal
37	chr12:25404568-25404618	HUVEC	blood vessel:	n/a
38	chr12:25404568-25404618	IMR90	lung:	fetal
39	chr12:25404596-25404646	PrEC	prostate:	n/a
40	chr12:25404596-25404646	GM12878	blood:	n/a
41	chr12:25404596-25404646	HPAEpiC	pulmonary alveolar:	n/a
42	chr12:25404568-25404618	NH-A	brain:	n/a
43	chr12:25404568-25404618	GM12891	blood:	n/a
44	chr12:25404596-25404646	HCM	heart:	n/a
45	chr12:25404596-25404646	HMEC	breast:	n/a
46	chr12:25404596-25404646	AG09309	skin:	n/a
47	chr12:25404596-25404646	HRCEpiC	kidney:	n/a
48	chr12:25404568-25404618	AG04450	lung:	fetal
49	chr12:25404596-25404646	NH-A	brain:	n/a
50	chr12:25404568-25404618	BJ	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:25346725..25349884-chr12:25402144..25405058,5	K562	blood:
2	chr12:25403893..25404684-chr12:25538545..25539087,2	NB4	blood:
3	chr12:25346543..25348618-chr12:25402303..25405258,3	K562	blood:

No data

Variant related genes	Relation type
KRAS	TF binding region
KRAS	CpG island
ENSG00000118307	Chromatin interaction
ENSG00000205707	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10842507	0.92[CEU][hapmap]
rs10842508	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs10842509	0.92[CHB][hapmap];0.83[AMR][1000 genomes]
rs11047826	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs11047880	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs11047882	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs11047892	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs11047911	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11047918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11533487	0.85[CEU][hapmap]
rs12228277	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12229161	0.85[CEU][hapmap];0.85[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap]
rs12229450	0.85[CEU][hapmap]
rs12230737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12230955	0.87[AMR][1000 genomes]
rs12423011	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12423489	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs12423778	0.85[CEU][hapmap]
rs12424283	0.92[CHB][hapmap]
rs12427119	0.85[CEU][hapmap]
rs12427141	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs17329424	1.00[CEU][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs17387444	0.85[CEU][hapmap];0.85[GIH][hapmap];0.81[TSI][hapmap]
rs2970532	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3782188	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs3924649	1.00[CHB][hapmap]
rs4623993	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4963601	0.85[GIH][hapmap]
rs4963852	0.85[CEU][hapmap]
rs4963853	0.85[CEU][hapmap]
rs61016093	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61761101	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61763584	0.87[AMR][1000 genomes]
rs73073207	0.86[AMR][1000 genomes]
rs7309862	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7969931	0.85[CHB][hapmap]
rs7973746	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7979296	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv898926	chr12:25367669-25408047	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv898927	chr12:25389220-25408047	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3324549	chr12:25402710-25405458	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25402000-25404800	Active TSS	GM12878-XiMat	blood
2	chr12:25402400-25405200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr12:25402600-25404800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:25402600-25404800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:25402600-25404800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:25402600-25404800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr12:25402600-25404800	Active TSS	HMEC	breast
8	chr12:25402600-25404800	Active TSS	NHDF-Ad	bronchial
9	chr12:25402600-25405000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr12:25402600-25405000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:25402800-25404800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:25402800-25404800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr12:25402800-25404800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:25402800-25404800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:25402800-25404800	Active TSS	Fetal Muscle Trunk	muscle
16	chr12:25402800-25404800	Active TSS	Ovary	ovary
17	chr12:25402800-25405000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:25403000-25404800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:25403000-25404800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:25403000-25404800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr12:25403000-25404800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:25403000-25404800	Active TSS	Brain Germinal Matrix	brain
23	chr12:25403000-25404800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr12:25403000-25404800	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:25403000-25404800	Active TSS	Left Ventricle	heart
26	chr12:25403000-25404800	Active TSS	Psoas Muscle	Psoas
27	chr12:25403000-25404800	Active TSS	Right Ventricle	heart
28	chr12:25403000-25404800	Active TSS	Stomach Smooth Muscle	stomach
29	chr12:25403000-25404800	Active TSS	HSMMtube	muscle
30	chr12:25403000-25405000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr12:25403000-25405000	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr12:25403000-25405000	Active TSS	Brain Hippocampus Middle	brain
33	chr12:25403000-25405000	Active TSS	Rectal Smooth Muscle	rectum
34	chr12:25403200-25404800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:25403200-25404800	Active TSS	Primary T cells from cord blood	blood
36	chr12:25403200-25404800	Active TSS	Brain Cingulate Gyrus	brain
37	chr12:25403200-25404800	Active TSS	Fetal Brain Female	brain
38	chr12:25403200-25404800	Active TSS	Thymus	Thymus
39	chr12:25403200-25404800	Active TSS	Osteobl	bone
40	chr12:25403200-25405000	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr12:25403400-25404800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr12:25403400-25405000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:25404200-25404800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr12:25404200-25404800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr12:25404200-25404800	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr12:25404200-25404800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr12:25404200-25404800	Active TSS	Fetal Lung	lung
48	chr12:25404200-25405000	Flanking Bivalent TSS/Enh	Dnd41	blood
49	chr12:25404400-25404800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr12:25404400-25404800	Flanking Active TSS	Primary hematopoietic stem cells	blood

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