Variant report

Variant	rs144919983
Chromosome Location	chr7:26191666-26191667
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:265)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr7:26191546-26192306	K562	blood:	n/a	chr7:26191795-26191811 chr7:26192019-26192035 chr7:26191803-26191819 chr7:26191830-26191846 chr7:26191917-26191933 chr7:26191796-26191812
2	CTCFL	chr7:26191631-26191902	K562	blood:	n/a	n/a
3	JUND	chr7:26191249-26191885	K562	blood:	n/a	n/a
4	POLR2A	chr7:26191306-26192201	PBDE	blood:	n/a	n/a
5	CTCF	chr7:26191660-26191810	MCF-7	breast:	n/a	n/a
6	MYC	chr7:26191614-26192252	K562	blood:	n/a	chr7:26191976-26191985 chr7:26191806-26191816 chr7:26192034-26192050
7	POLR2A	chr7:26191408-26191688	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr7:26191508-26192058	K562	blood:	n/a	n/a
9	RAD21	chr7:26191523-26191720	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:26191348-26192088	GM12891	blood:	n/a	n/a
11	CHD2	chr7:26191482-26191998	GM12878	blood:	n/a	n/a
12	CTCF	chr7:26191660-26191810	HCM	heart:	n/a	n/a
13	CTCF	chr7:26191600-26191750	HBMEC	blood vessel:	n/a	n/a
14	POLR2A	chr7:26191485-26194872	PANC-1	pancreas:	n/a	n/a
15	CTCF	chr7:26191600-26191750	GM12873	blood:	n/a	n/a
16	POLR2A	chr7:26191446-26192022	HepG2	liver:	n/a	n/a
17	RUNX3	chr7:26190755-26192012	GM12878	blood:	n/a	n/a
18	ZNF143	chr7:26191438-26191990	H1-hESC	embryonic stem cell:	n/a	chr7:26191797-26191807 chr7:26191680-26191695 chr7:26191673-26191691
19	ZBTB7A	chr7:26191588-26192796	K562	blood:	n/a	n/a
20	CTCF	chr7:26191635-26191792	Lung_OC	lung:	n/a	n/a
21	POLR2A	chr7:26191527-26192095	K562	blood:	n/a	n/a
22	POLR2A	chr7:26191513-26191707	A549	lung:	n/a	n/a
23	TCF12	chr7:26191262-26191863	A549	lung:	n/a	n/a
24	E2F4	chr7:26191578-26191919	MCF10A-Er-Src	breast:	n/a	chr7:26191843-26191853
25	POLR2A	chr7:26191499-26194420	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr7:26191179-26193156	Raji	blood:	n/a	n/a
27	HCFC1	chr7:26191121-26192055	K562	blood:	n/a	n/a
28	CTCF	chr7:26191560-26191710	HepG2	liver:	n/a	n/a
29	TAF1	chr7:26191622-26191993	K562	blood:	n/a	n/a
30	CTCFL	chr7:26191650-26191843	K562	blood:	n/a	n/a
31	POLR2A	chr7:26191640-26192080	K562	blood:	n/a	n/a
32	POLR2A	chr7:26191409-26192785	GM15510	blood:	n/a	n/a
33	FOXP2	chr7:26191397-26191992	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr7:26191395-26192054	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr7:26191450-26191982	HepG2	liver:	n/a	n/a
36	POLR2A	chr7:26191425-26192141	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr7:26191564-26191840	GM19240	blood:	n/a	chr7:26191806-26191819
38	CTCF	chr7:26191539-26191858	GM12892	blood:	n/a	chr7:26191806-26191819
39	TBP	chr7:26191343-26192029	K562	blood:	n/a	n/a
40	CTCF	chr7:26191551-26191874	Spleen_OC	spleen:	n/a	chr7:26191806-26191819
41	CREB1	chr7:26191459-26191995	A549	lung:	n/a	n/a
42	E2F6	chr7:26191358-26193256	K562	blood:	n/a	chr7:26192027-26192036 chr7:26191843-26191853
43	EGR1	chr7:26191621-26191960	H1-hESC	embryonic stem cell:	n/a	chr7:26191672-26191696 chr7:26191808-26191822 chr7:26191746-26191760 chr7:26191807-26191820
44	POLR2A	chr7:26191260-26192240	MCF-7	breast:	n/a	n/a
45	RCOR1	chr7:26191327-26191767	HepG2	liver:	n/a	n/a
46	CCNT2	chr7:26191569-26192234	K562	blood:	n/a	n/a
47	CTCF	chr7:26191620-26191770	GM12865	blood:	n/a	n/a
48	MAX	chr7:26191379-26192184	NB4	blood:	n/a	chr7:26191976-26191985 chr7:26191806-26191816 chr7:26192034-26192050
49	POLR2A	chr7:26190756-26192072	GM12891	blood:	n/a	n/a
50	TAF1	chr7:26191457-26191849	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:26191633-26191683	GM06990	blood:	n/a
2	chr7:26191633-26191683	ProgFib	skin:	n/a
3	chr7:26191633-26191683	Jurkat	blood:	n/a
4	chr7:26191633-26191683	BJ	skin:	n/a
5	chr7:26191633-26191683	GM12892	blood:	n/a
6	chr7:26191633-26191683	HL-60	blood:	n/a
7	chr7:26191633-26191683	HCF	heart:	n/a
8	chr7:26191633-26191683	HEK293	kidney:	embryo
9	chr7:26191633-26191683	Hela-S3	cervix:	n/a
10	chr7:26191633-26191683	HCM	heart:	n/a
11	chr7:26191633-26191683	LNCaP	prostate:	n/a
12	chr7:26191633-26191683	ovcar-3	ovarian:	n/a
13	chr7:26191633-26191683	NB4	blood:	n/a
14	chr7:26191633-26191683	AoSMC	blood vessel:	n/a
15	chr7:26191633-26191683	HEEpiC	esophagus:	n/a
16	chr7:26191633-26191683	HCPEpiC	choroid plexus:	n/a
17	chr7:26191633-26191683	HepG2	liver:	n/a
18	chr7:26191633-26191683	NT2-D1	testis:	n/a
19	chr7:26191633-26191683	NHDF-neo	bronchial:	n/a
20	chr7:26191633-26191683	HIPEpiC	eye:	n/a
21	chr7:26191633-26191683	AG04449	skin:	fetal
22	chr7:26191633-26191683	HRPEpiC	eye:	n/a
23	chr7:26191633-26191683	HRCEpiC	kidney:	n/a
24	chr7:26191633-26191683	U87	brain:	n/a
25	chr7:26191633-26191683	SK-N-SH	brain:	n/a
26	chr7:26191633-26191683	AG09319	gingival:	n/a
27	chr7:26191633-26191683	GM19239	blood:	n/a
28	chr7:26191633-26191683	A549	lung:	n/a
29	chr7:26191633-26191683	Hepatocyte	liver:	n/a
30	chr7:26191633-26191683	SK-N-MC	brain:	n/a
31	chr7:26191633-26191683	HUVEC	blood vessel:	n/a
32	chr7:26191633-26191683	BE2_C	brain:	n/a
33	chr7:26191633-26191683	SK-N-SH_RA	brain:	n/a
34	chr7:26191633-26191683	HMEC	breast:	n/a
35	chr7:26191633-26191683	AG09309	skin:	n/a
36	chr7:26191633-26191683	GM12878	blood:	n/a
37	chr7:26191633-26191683	HPAEpiC	pulmonary alveolar:	n/a
38	chr7:26191633-26191683	GM12891	blood:	n/a
39	chr7:26191633-26191683	AG10803	skin:	n/a
40	chr7:26191633-26191683	ECC-1	luminal epithelium:	n/a
41	chr7:26191633-26191683	SAEC	small airway:	n/a
42	chr7:26191633-26191683	IMR90	lung:	fetal
43	chr7:26191633-26191683	MCF10A-Er-Src	breast:	n/a
44	chr7:26191633-26191683	NHBE	bronchial:	n/a
45	chr7:26191633-26191683	HAEpiC	amniotic membrane:	n/a
46	chr7:26191633-26191683	HRE	kidney:	n/a
47	chr7:26191633-26191683	HNPCEpiC	eye:	n/a
48	chr7:26191633-26191683	PrEC	prostate:	n/a
49	chr7:26191633-26191683	PFSK-1	brain:	n/a
50	chr7:26191633-26191683	CMK	blood:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26187891..26202612-chr7:26221953..26234536,42	K562	blood:
2	chr7:26191421..26193047-chr7:26221749..26224345,2	MCF-7	breast:
3	chr7:26191444..26193489-chr7:26235586..26237855,2	K562	blood:
4	chr7:26190306..26191845-chr7:26238643..26241387,3	K562	blood:
5	chr7:26187762..26202698-chr7:26218693..26233402,42	K562	blood:
6	chr7:26190297..26193509-chr7:26229457..26232588,3	MCF-7	breast:
7	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:
8	chr7:26190149..26194223-chr7:26238891..26242307,10	MCF-7	breast:
9	chr7:26191482..26195412-chr7:26238481..26241782,5	MCF-7	breast:
10	chr7:26190764..26192860-chr7:26222610..26225578,2	MCF-7	breast:

No data

Variant related genes	Relation type
NFE2L3	TF binding region
NFE2L3	CpG island
ENSG00000122565	Chromatin interaction
ENSG00000050344	Chromatin interaction
ENSG00000122566	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	nsv606432	chr7:25988185-26223294	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
2	nsv1019804	chr7:26057723-26214280	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv887849	chr7:26075094-26234302	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1028727	chr7:26111703-26193309	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
6	nsv1034358	chr7:26142380-26219559	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	esv3341117	chr7:26191052-26193600	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3392243	chr7:26191177-26193275	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 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	chr7:26190000-26191800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:26190800-26191800	Bivalent Enhancer	Fetal Brain Male	brain
3	chr7:26191000-26191800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:26191000-26191800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:26191000-26192200	Active TSS	NHLF	lung
6	chr7:26191000-26192400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
7	chr7:26191200-26191800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:26191200-26191800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:26191200-26191800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr7:26191200-26191800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr7:26191200-26191800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:26191200-26191800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
13	chr7:26191200-26191800	Flanking Active TSS	Fetal Thymus	thymus
14	chr7:26191200-26191800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr7:26191200-26191800	Flanking Active TSS	Thymus	Thymus
16	chr7:26191200-26192800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr7:26191200-26193000	Active TSS	HSMM	muscle
18	chr7:26191200-26193400	Bivalent/Poised TSS	Osteobl	bone
19	chr7:26191200-26193800	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr7:26191200-26194200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr7:26191400-26191800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:26191400-26191800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:26191400-26191800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
24	chr7:26191400-26191800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:26191400-26191800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
26	chr7:26191400-26191800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:26191400-26191800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:26191400-26191800	Flanking Active TSS	Liver	Liver
29	chr7:26191400-26191800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
30	chr7:26191400-26191800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
31	chr7:26191400-26191800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
32	chr7:26191400-26191800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
33	chr7:26191400-26191800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr7:26191400-26191800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
35	chr7:26191400-26191800	Flanking Active TSS	HMEC	breast
36	chr7:26191400-26192000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:26191400-26192000	Bivalent/Poised TSS	NHDF-Ad	bronchial
38	chr7:26191400-26192200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:26191400-26192200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:26191400-26192400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:26191400-26192400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr7:26191400-26192400	Flanking Active TSS	Right Ventricle	heart
43	chr7:26191400-26192600	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr7:26191400-26192600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
45	chr7:26191400-26192600	Active TSS	Esophagus	oesophagus
46	chr7:26191400-26192600	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr7:26191400-26192600	Active TSS	Rectal Smooth Muscle	rectum
48	chr7:26191400-26192800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:26191400-26192800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:26191400-26192800	Active TSS	Sigmoid Colon	Sigmoid Colon

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