Variant report

Variant	rs368868653
Chromosome Location	chr4:74123952-74123953
allele	C/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	MAZ	chr4:74122751-74125776	IMR90	lung:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74124421-74124430 chr4:74123797-74123806
2	POLR2A	chr4:74123492-74125650	GM19193	blood:	n/a	n/a
3	MAX	chr4:74123406-74123952	HepG2	liver:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74123797-74123806
4	POLR2A	chr4:74122863-74125611	K562	blood:	n/a	n/a
5	MAX	chr4:74122935-74125527	GM12878	blood:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74124421-74124430 chr4:74123797-74123806
6	WRNIP1	chr4:74122912-74124004	GM12878	blood:	n/a	n/a
7	MAX	chr4:74123125-74123964	H1-hESC	embryonic stem cell:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74123797-74123806
8	CTCF	chr4:74123820-74123970	AG04450	lung:	n/a	n/a
9	TBP	chr4:74123079-74124040	HepG2	liver:	n/a	n/a
10	CTCF	chr4:74123880-74124030	GM12872	blood:	n/a	n/a
11	POLR2A	chr4:74123871-74125468	GM12878	blood:	n/a	n/a
12	CREB1	chr4:74123602-74125449	GM12878	blood:	n/a	chr4:74124884-74124897
13	POLR2A	chr4:74123010-74126012	Hela-S3	cervix:	n/a	n/a
14	MAX	chr4:74123542-74124390	MCF-7	breast:	n/a	chr4:74123797-74123806
15	HEY1	chr4:74122913-74125525	HepG2	liver:	n/a	n/a
16	CREB1	chr4:74123462-74125576	HepG2	liver:	n/a	chr4:74124884-74124897
17	POLR2A	chr4:74122715-74125687	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr4:74123284-74125813	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr4:74122910-74126122	IMR90	lung:	n/a	n/a
20	POLR2A	chr4:74122469-74126057	GM12878	blood:	n/a	n/a
21	CTCF	chr4:74123820-74124090	GM12871	blood:	n/a	n/a
22	MAX	chr4:74123347-74125185	H1-hESC	embryonic stem cell:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74124421-74124430 chr4:74123797-74123806
23	CTCF	chr4:74123840-74123990	HPAF	blood vessel:	n/a	n/a
24	POLR2A	chr4:74123735-74124038	GM12891	blood:	n/a	n/a
25	POLR2A	chr4:74123484-74125461	Hela-S3	cervix:	n/a	n/a
26	GABPA	chr4:74123859-74124489	K562	blood:	n/a	n/a
27	CTCF	chr4:74123811-74123960	Gliobla	brain:	n/a	n/a
28	MAX	chr4:74123359-74125221	H1-hESC	embryonic stem cell:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74124421-74124430 chr4:74123797-74123806
29	YY1	chr4:74123748-74125189	K562	blood:	n/a	n/a
30	POLR2A	chr4:74123717-74125643	MCF-7	breast:	n/a	n/a
31	CHD2	chr4:74123537-74125559	HepG2	liver:	n/a	chr4:74124555-74124564
32	CHD1	chr4:74123828-74124380	GM12878	blood:	n/a	n/a
33	POLR2A	chr4:74122906-74125639	K562	blood:	n/a	n/a
34	MXI1	chr4:74122089-74126209	IMR90	lung:	n/a	chr4:74122466-74122481
35	TAF1	chr4:74123620-74125234	K562	blood:	n/a	n/a
36	NFIC	chr4:74122801-74124043	GM12878	blood:	n/a	n/a
37	CTCF	chr4:74123740-74124475	GM12892	blood:	n/a	n/a
38	SIN3AK20	chr4:74123688-74125439	MCF-7	breast:	n/a	n/a
39	CHD2	chr4:74123566-74125205	GM12878	blood:	n/a	chr4:74124555-74124564
40	POLR2A	chr4:74122595-74126208	GM12891	blood:	n/a	n/a
41	ZBTB7A	chr4:74123537-74123997	K562	blood:	n/a	n/a
42	BRCA1	chr4:74123838-74125599	Hela-S3	cervix:	n/a	chr4:74124555-74124564
43	TBP	chr4:74122928-74125674	K562	blood:	n/a	n/a
44	EGR1	chr4:74123625-74125081	K562	blood:	n/a	chr4:74124400-74124410 chr4:74124874-74124883 chr4:74123673-74123688
45	CHD1	chr4:74122976-74124021	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr4:74123492-74125500	ECC-1	luminal epithelium:	n/a	chr4:74124421-74124430 chr4:74123797-74123806
47	POLR2A	chr4:74123878-74125519	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr4:74123499-74125232	HepG2	liver:	n/a	n/a
49	MYC	chr4:74122881-74125628	K562	blood:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74124421-74124430 chr4:74123797-74123806
50	POLR2A	chr4:74123903-74124042	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:73968348..73971622-chr4:74123384..74126959,3	MCF-7	breast:
2	chr4:73929823..73938112-chr4:74120693..74129342,27	K562	blood:
3	chr4:74122515..74124717-chr4:75023066..75024638,2	K562	blood:
4	chr4:73967876..73970558-chr4:74123013..74124947,2	MCF-7	breast:
5	chr4:74122758..74124743-chr4:74269712..74272494,2	K562	blood:
6	chr4:73932413..73938405-chr4:74120693..74126649,20	K562	blood:
7	chr4:74086092..74089125-chr4:74123157..74126277,4	MCF-7	breast:
8	chr4:74086715..74092062-chr4:74122892..74125871,6	MCF-7	breast:
9	chr4:74087106..74090351-chr4:74123421..74126445,9	K562	blood:
10	chr4:73933853..73938156-chr4:74122325..74126609,11	MCF-7	breast:
11	chr17:7387578..7388352-chr4:74123868..74124804,2	HCT-116	colon:
12	chr4:74018332..74023301-chr4:74122420..74126136,8	MCF-7	breast:
13	chr4:73932730..73938383-chr4:74120374..74126369,19	MCF-7	breast:
14	chr17:79823864..79825760-chr4:74123183..74125503,2	MCF-7	breast:
15	chr4:74123296..74125010-chr4:74605307..74607860,2	K562	blood:
16	chr4:73935119..73935893-chr4:74123941..74124455,2	Hela-S3	cervix:
17	chr4:74123460..74124971-chr6:27773658..27776230,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250220	TF binding region
ENSG00000163631	Chromatin interaction
ENSG00000132466	Chromatin interaction
ENSG00000169429	Chromatin interaction
ENSG00000163626	Chromatin interaction
ENSG00000262413	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000269559	Chromatin interaction
ENSG00000163738	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	esv3350599	chr4:74122400-74142462	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv3412985	chr4:74123113-74125961	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a
4	esv3346158	chr4:74123363-74125686	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74121200-74124000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:74121600-74125400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:74121600-74126000	Active TSS	Right Ventricle	heart
4	chr4:74122000-74124000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:74122000-74124000	Active TSS	Right Atrium	heart
6	chr4:74122000-74125600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:74122000-74125800	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr4:74122000-74125800	Active TSS	Stomach Smooth Muscle	stomach
9	chr4:74122000-74126200	Active TSS	Aorta	Aorta
10	chr4:74122200-74124000	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr4:74122200-74125200	Active TSS	Brain Angular Gyrus	brain
12	chr4:74122200-74125800	Active TSS	HMEC	breast
13	chr4:74122200-74126200	Active TSS	Psoas Muscle	Psoas
14	chr4:74122200-74126400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:74122200-74126400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:74122400-74124000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr4:74122400-74125600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr4:74122400-74125600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:74122400-74125800	Active TSS	Fetal Intestine Small	intestine
20	chr4:74122400-74125800	Active TSS	Ovary	ovary
21	chr4:74122400-74126000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:74122400-74126000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:74122400-74126000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:74122400-74126000	Active TSS	Colonic Mucosa	Colon
25	chr4:74122400-74126200	Active TSS	NHLF	lung
26	chr4:74122400-74126600	Active TSS	GM12878-XiMat	blood
27	chr4:74122600-74124000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:74122600-74124200	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr4:74122600-74125400	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr4:74122600-74125400	Active TSS	Thymus	Thymus
31	chr4:74122600-74125800	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr4:74122600-74125800	Active TSS	Fetal Muscle Leg	muscle
33	chr4:74122600-74125800	Active TSS	Fetal Thymus	thymus
34	chr4:74122600-74125800	Active TSS	A549	lung
35	chr4:74122600-74125800	Active TSS	HSMMtube	muscle
36	chr4:74122600-74125800	Active TSS	NHDF-Ad	bronchial
37	chr4:74122600-74126000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:74122600-74126400	Active TSS	Fetal Brain Male	brain
39	chr4:74122800-74124000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr4:74122800-74125400	Active TSS	Brain Anterior Caudate	brain
41	chr4:74122800-74125600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:74122800-74125600	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr4:74122800-74125600	Active TSS	Fetal Brain Female	brain
44	chr4:74122800-74125800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:74122800-74125800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:74122800-74125800	Active TSS	Muscle Satellite Cultured Cells	--
47	chr4:74122800-74125800	Active TSS	Fetal Intestine Large	intestine
48	chr4:74122800-74125800	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr4:74122800-74125800	Active TSS	Fetal Lung	lung
50	chr4:74122800-74125800	Active TSS	Fetal Stomach	stomach

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