Variant report

Variant	rs373094306
Chromosome Location	chr7:6743137-6743138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6743091-6743141	MCF10A-Er-Src	breast:	n/a
2	chr7:6743091-6743141	ProgFib	skin:	n/a
3	chr7:6743091-6743141	SK-N-MC	brain:	n/a
4	chr7:6743091-6743141	HEK293	kidney:	embryo
5	chr7:6743091-6743141	PANC-1	pancreas:	n/a
6	chr7:6743091-6743141	HNPCEpiC	eye:	n/a
7	chr7:6743091-6743141	HRPEpiC	eye:	n/a
8	chr7:6743091-6743141	NT2-D1	testis:	n/a
9	chr7:6743091-6743141	BJ	skin:	n/a
10	chr7:6743091-6743141	HRE	kidney:	n/a
11	chr7:6743091-6743141	HMEC	breast:	n/a
12	chr7:6743091-6743141	HIPEpiC	eye:	n/a
13	chr7:6743091-6743141	PrEC	prostate:	n/a
14	chr7:6743091-6743141	GM12892	blood:	n/a
15	chr7:6743091-6743141	HL-60	blood:	n/a
16	chr7:6743091-6743141	Hepatocyte	liver:	n/a
17	chr7:6743091-6743141	NHDF-neo	bronchial:	n/a
18	chr7:6743091-6743141	CMK	blood:	n/a
19	chr7:6743091-6743141	H1-hESC	embryonic stem cell:	embryo
20	chr7:6743091-6743141	HCM	heart:	n/a
21	chr7:6743091-6743141	HPAEpiC	pulmonary alveolar:	n/a
22	chr7:6743091-6743141	NH-A	brain:	n/a
23	chr7:6743091-6743141	AG04449	skin:	fetal
24	chr7:6743091-6743141	Caco-2	colon:	n/a
25	chr7:6743091-6743141	HEEpiC	esophagus:	n/a
26	chr7:6743091-6743141	Hela-S3	cervix:	n/a
27	chr7:6743091-6743141	U87	brain:	n/a
28	chr7:6743091-6743141	IMR90	lung:	fetal
29	chr7:6743091-6743141	NHBE	bronchial:	n/a
30	chr7:6743091-6743141	A549	lung:	n/a
31	chr7:6743091-6743141	AG10803	skin:	n/a
32	chr7:6743091-6743141	MCF-7	breast:	n/a
33	chr7:6743091-6743141	AG04450	lung:	fetal
34	chr7:6743091-6743141	SK-N-SH	brain:	n/a
35	chr7:6743091-6743141	GM12878	blood:	n/a
36	chr7:6743091-6743141	RPTEC	kidney:	n/a
37	chr7:6743091-6743141	HAEpiC	amniotic membrane:	n/a
38	chr7:6743091-6743141	HepG2	liver:	n/a
39	chr7:6743091-6743141	K562	blood:	n/a
40	chr7:6743091-6743141	AG09309	skin:	n/a
41	chr7:6743091-6743141	AG09319	gingival:	n/a
42	chr7:6743091-6743141	NB4	blood:	n/a
43	chr7:6743091-6743141	GM12891	blood:	n/a
44	chr7:6743091-6743141	Jurkat	blood:	n/a
45	chr7:6743091-6743141	PFSK-1	brain:	n/a
46	chr7:6743091-6743141	HCT-116	colon:	n/a
47	chr7:6743091-6743141	SAEC	small airway:	n/a
48	chr7:6743091-6743141	LNCaP	prostate:	n/a
49	chr7:6743091-6743141	T-47D	breast:	n/a
50	chr7:6743091-6743141	GM06990	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6741635..6743185-chr7:6744892..6746414,2	MCF-7	breast:
2	chr7:6727828..6730097-chr7:6741325..6744372,3	MCF-7	breast:
3	chr7:6736883..6740896-chr7:6741673..6744991,4	MCF-7	breast:
4	chr7:6738166..6741088-chr7:6742524..6744616,4	MCF-7	breast:
5	chr7:6723810..6726047-chr7:6741639..6744334,2	K562	blood:

No data

Variant related genes	Relation type
ZNF12	CpG island
ENSG00000164631	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
4	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv887439	chr7:6736332-6791749	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1015646	chr7:6738483-6779270	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv3343175	chr7:6741252-6743800	Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3443834	chr7:6741452-6743575	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv887440	chr7:6743097-6820508	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr7:6712400-6744000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:6721400-6745200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr7:6721600-6743800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr7:6721600-6744600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:6721600-6745400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:6721800-6744000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:6722400-6745000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
8	chr7:6722600-6745000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:6723600-6745000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:6723600-6745400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:6723800-6745000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:6724000-6744800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:6725000-6744800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:6725800-6745000	ZNF genes & repeats	NH-A	brain
15	chr7:6726000-6743600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr7:6726000-6744800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr7:6726000-6745000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:6726000-6745000	ZNF genes & repeats	Fetal Muscle Leg	muscle
19	chr7:6726000-6745200	ZNF genes & repeats	A549	lung
20	chr7:6726200-6743600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:6726200-6743600	ZNF genes & repeats	NHEK	skin
22	chr7:6726200-6743800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:6726200-6743800	ZNF genes & repeats	HMEC	breast
24	chr7:6726200-6745000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr7:6726200-6745000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr7:6726200-6745000	ZNF genes & repeats	Fetal Lung	lung
27	chr7:6726400-6743600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
28	chr7:6726400-6744800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr7:6726600-6745000	ZNF genes & repeats	GM12878-XiMat	blood
30	chr7:6730400-6744000	ZNF genes & repeats	Colonic Mucosa	Colon
31	chr7:6730800-6745000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:6731200-6745400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:6732600-6744000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
34	chr7:6733200-6745200	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr7:6733600-6744800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:6736200-6743600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:6737000-6744000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:6738000-6744800	Strong transcription	Fetal Thymus	thymus
39	chr7:6738800-6743600	ZNF genes & repeats	Hela-S3	cervix
40	chr7:6738800-6744800	ZNF genes & repeats	Fetal Stomach	stomach
41	chr7:6739400-6745600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:6739600-6745400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:6739800-6743200	Strong transcription	HUVEC	blood vessel
44	chr7:6740200-6743600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:6740200-6743800	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr7:6740200-6743800	ZNF genes & repeats	Lung	lung
47	chr7:6740200-6745200	ZNF genes & repeats	K562	blood
48	chr7:6740400-6743600	ZNF genes & repeats	NHLF	lung
49	chr7:6740400-6743800	ZNF genes & repeats	Aorta	Aorta
50	chr7:6740400-6743800	ZNF genes & repeats	NHDF-Ad	bronchial

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