Variant report

Variant	rs7313795
Chromosome Location	chr12:278605-278606
allele	G/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	CTCF	chr12:278460-278610	HCT-116	colon:	n/a	chr12:278561-278574
2	CTCF	chr12:278480-278630	WERI-Rb-1	eye:	n/a	chr12:278561-278574
3	CTCF	chr12:278520-278670	BJ	skin:	n/a	chr12:278561-278574
4	CTCF	chr12:278437-278622	H1-hESC	embryonic stem cell:	n/a	chr12:278561-278574
5	CTCF	chr12:278460-278610	AG09309	skin:	n/a	chr12:278561-278574
6	ESR1	chr12:278448-278850	ECC-1	luminal epithelium:	n/a	chr12:278663-278678 chr12:278662-278679
7	CTCF	chr12:278460-278610	HPAF	blood vessel:	n/a	chr12:278561-278574
8	CTCF	chr12:278460-278610	Caco-2	colon:	n/a	chr12:278561-278574
9	RAD21	chr12:278336-279099	H1-hESC	embryonic stem cell:	n/a	chr12:279077-279090 chr12:278740-278750 chr12:278560-278573 chr12:278799-278806
10	ESR1	chr12:278452-278886	ECC-1	luminal epithelium:	n/a	chr12:278663-278678 chr12:278662-278679
11	CTCF	chr12:278460-278610	SK-N-SH_RA	brain:	n/a	chr12:278561-278574
12	CTCF	chr12:278480-278630	NB4	blood:	n/a	chr12:278561-278574
13	CTCF	chr12:278460-278610	GM12874	blood:	n/a	chr12:278561-278574
14	E2F6	chr12:278531-278650	K562	blood:	n/a	n/a
15	CTCF	chr12:278480-278630	HEK293	kidney:	n/a	chr12:278561-278574
16	CTCF	chr12:278560-278710	GM12872	blood:	n/a	chr12:278561-278574
17	CTCF	chr12:278460-278610	GM12864	blood:	n/a	chr12:278561-278574
18	CTCF	chr12:278460-278610	GM12873	blood:	n/a	chr12:278561-278574
19	RAD21	chr12:278484-279046	IMR90	lung:	n/a	chr12:278740-278750 chr12:278560-278573 chr12:278799-278806
20	CTCF	chr12:278460-278610	AG04449	skin:	n/a	chr12:278561-278574
21	E2F6	chr12:278335-278866	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr12:278460-278610	HEK293	kidney:	n/a	chr12:278561-278574
23	CTCF	chr12:278500-278650	HRPEpiC	eye:	n/a	chr12:278561-278574
24	CTCF	chr12:278520-278670	HA-sp	spinal cord:	n/a	chr12:278561-278574
25	MAX	chr12:278445-278720	NB4	blood:	n/a	n/a
26	CTCF	chr12:278460-278610	HBMEC	blood vessel:	n/a	chr12:278561-278574
27	CTCF	chr12:278540-278690	SK-N-SH_RA	brain:	n/a	chr12:278561-278574
28	CTCF	chr12:278482-279045	IMR90	lung:	n/a	chr12:278891-278899 chr12:278561-278574
29	CTCF	chr12:278431-278681	K562	blood:	n/a	chr12:278561-278574
30	CTCF	chr12:278460-278610	WERI-Rb-1	eye:	n/a	chr12:278561-278574
31	CTCF	chr12:278460-278610	HRPEpiC	eye:	n/a	chr12:278561-278574
32	RAD21	chr12:278508-278642	H1-hESC	embryonic stem cell:	n/a	chr12:278560-278573
33	CTCF	chr12:278580-278730	NHEK	skin:	n/a	n/a
34	CTCF	chr12:278520-278670	HCPEpiC	choroid plexus:	n/a	chr12:278561-278574
35	CTCF	chr12:278480-278630	HCFaa	heart:	n/a	chr12:278561-278574
36	CTCF	chr12:278500-278650	HCM	heart:	n/a	chr12:278561-278574
37	CTCF	chr12:278377-278655	H1-hESC	embryonic stem cell:	n/a	chr12:278561-278574
38	CTCF	chr12:278460-278610	HCPEpiC	choroid plexus:	n/a	chr12:278561-278574

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:278455..281013-chr12:283457..285093,2	K562	blood:
2	chr12:276004..278175-chr12:278500..282427,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256694	TF binding region
ENSG00000120645	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16928441	1.00[CEU][hapmap]
rs16932141	1.00[EUR][1000 genomes]
rs477676	1.00[EUR][1000 genomes]
rs478520	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs522993	1.00[CEU][hapmap]
rs529198	1.00[EUR][1000 genomes]
rs647001	1.00[EUR][1000 genomes]
rs73603187	1.00[EUR][1000 genomes]
rs797737	1.00[EUR][1000 genomes]
rs797739	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv983433	chr12:145740-400932	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv427901	chr12:146333-344299	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv428269	chr12:146333-344299	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1041243	chr12:150430-310571	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1038621	chr12:150430-324923	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv898552	chr12:154752-303320	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:249000-284200	Weak transcription	Right Atrium	heart
2	chr12:253800-285600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:262800-284200	Weak transcription	Brain Angular Gyrus	brain
4	chr12:266200-280000	Weak transcription	Right Ventricle	heart
5	chr12:268800-284200	Weak transcription	Brain Anterior Caudate	brain
6	chr12:273000-279400	Enhancers	Fetal Intestine Small	intestine
7	chr12:273000-281000	Weak transcription	Colonic Mucosa	Colon
8	chr12:273200-279000	Enhancers	Fetal Intestine Large	intestine
9	chr12:273600-284600	Weak transcription	Esophagus	oesophagus
10	chr12:275000-279000	Enhancers	Fetal Thymus	thymus
11	chr12:276200-282800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:276200-284000	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:276400-280200	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr12:276400-281000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr12:276400-283000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:276600-279800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr12:277200-279400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:277200-292800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:277400-280200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr12:277400-283200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:277600-278800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:277600-280000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr12:277600-280800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr12:277600-280800	Weak transcription	Stomach Mucosa	stomach
25	chr12:277600-281000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr12:277800-278800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:277800-278800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr12:277800-278800	Enhancers	HSMMtube	muscle
29	chr12:277800-279200	Enhancers	HSMM	muscle
30	chr12:277800-279800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:277800-279800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr12:277800-280000	Enhancers	NH-A	brain
33	chr12:277800-280800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr12:277800-282400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:278000-278800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:278000-278800	Enhancers	Fetal Stomach	stomach
37	chr12:278200-278800	Bivalent Enhancer	Placenta	Placenta
38	chr12:278200-279000	Weak transcription	Fetal Lung	lung
39	chr12:278400-279000	Enhancers	Fetal Heart	heart
40	chr12:278400-279400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:278400-279400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:278400-280000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:278400-280600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr12:278400-283400	Weak transcription	Liver	Liver
45	chr12:278400-283600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr12:278400-288400	Weak transcription	Fetal Kidney	kidney
47	chr12:278600-279200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr12:278600-279600	Weak transcription	Fetal Brain Female	brain
49	chr12:278600-280000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:278600-280400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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