Variant report

Variant	rs144971270
Chromosome Location	chr4:74124054-74124055
allele	A/G
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	CTCF	chr4:74124022-74124477	GM12891	blood:	n/a	n/a
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	POLR2A	chr4:74124014-74125152	A549	lung:	n/a	n/a
7	HEY1	chr4:74124053-74125229	K562	blood:	n/a	n/a
8	POLR2A	chr4:74123871-74125468	GM12878	blood:	n/a	n/a
9	CREB1	chr4:74123602-74125449	GM12878	blood:	n/a	chr4:74124884-74124897
10	POLR2A	chr4:74124031-74125631	HCT-116	colon:	n/a	n/a
11	POLR2A	chr4:74123010-74126012	Hela-S3	cervix:	n/a	n/a
12	MAX	chr4:74123542-74124390	MCF-7	breast:	n/a	chr4:74123797-74123806
13	HEY1	chr4:74122913-74125525	HepG2	liver:	n/a	n/a
14	YY1	chr4:74123975-74125333	HepG2	liver:	n/a	n/a
15	CREB1	chr4:74123462-74125576	HepG2	liver:	n/a	chr4:74124884-74124897
16	POLR2A	chr4:74122715-74125687	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr4:74123284-74125813	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr4:74122910-74126122	IMR90	lung:	n/a	n/a
19	CTCF	chr4:74124000-74124150	BE2_C	brain:	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	EGR1	chr4:74123984-74124387	GM12878	blood:	n/a	n/a
24	POLR2A	chr4:74123484-74125461	Hela-S3	cervix:	n/a	n/a
25	GABPA	chr4:74123859-74124489	K562	blood:	n/a	n/a
26	MAX	chr4:74123359-74125221	H1-hESC	embryonic stem cell:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74124421-74124430 chr4:74123797-74123806
27	YY1	chr4:74123748-74125189	K562	blood:	n/a	n/a
28	POLR2A	chr4:74123717-74125643	MCF-7	breast:	n/a	n/a
29	POLR2A	chr4:74124003-74125626	HUVEC	blood vessel:	n/a	n/a
30	EP300	chr4:74124042-74124458	H1-hESC	embryonic stem cell:	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	CTCF	chr4:74123740-74124475	GM12892	blood:	n/a	n/a
37	SIN3AK20	chr4:74123688-74125439	MCF-7	breast:	n/a	n/a
38	CHD2	chr4:74123566-74125205	GM12878	blood:	n/a	chr4:74124555-74124564
39	POLR2A	chr4:74122595-74126208	GM12891	blood:	n/a	n/a
40	BRCA1	chr4:74123838-74125599	Hela-S3	cervix:	n/a	chr4:74124555-74124564
41	TBP	chr4:74122928-74125674	K562	blood:	n/a	n/a
42	EGR1	chr4:74123625-74125081	K562	blood:	n/a	chr4:74124400-74124410 chr4:74124874-74124883 chr4:74123673-74123688
43	MAX	chr4:74123492-74125500	ECC-1	luminal epithelium:	n/a	chr4:74124421-74124430 chr4:74123797-74123806
44	POLR2A	chr4:74123878-74125519	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr4:74123499-74125232	HepG2	liver:	n/a	n/a
46	MYC	chr4:74122881-74125628	K562	blood:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74124421-74124430 chr4:74123797-74123806
47	CTCF	chr4:74123840-74124130	AoAF	blood vessel:	n/a	n/a
48	MYC	chr4:74122878-74125497	K562	blood:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74124421-74124430 chr4:74123797-74123806
49	ZNF263	chr4:74122932-74124372	HEK293-T-REx	kidney:	n/a	chr4:74123965-74123974 chr4:74123958-74123967
50	CTCF	chr4:74124020-74124519	MCF-7	breast:	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
ANKRD17	TF binding region
ENSG00000250220	TF binding region
ENSG00000132466	Chromatin interaction
ENSG00000262413	Chromatin interaction
ENSG00000163631	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000217862	Chromatin interaction
ENSG00000163738	Chromatin interaction
ENSG00000269559	Chromatin interaction
ENSG00000163626	Chromatin interaction
ENSG00000169429	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000185130	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	chr4:74121600-74125400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr4:74121600-74126000	Active TSS	Right Ventricle	heart
3	chr4:74122000-74125600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:74122000-74125800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr4:74122000-74125800	Active TSS	Stomach Smooth Muscle	stomach
6	chr4:74122000-74126200	Active TSS	Aorta	Aorta
7	chr4:74122200-74125200	Active TSS	Brain Angular Gyrus	brain
8	chr4:74122200-74125800	Active TSS	HMEC	breast
9	chr4:74122200-74126200	Active TSS	Psoas Muscle	Psoas
10	chr4:74122200-74126400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr4:74122200-74126400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:74122400-74125600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr4:74122400-74125600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:74122400-74125800	Active TSS	Fetal Intestine Small	intestine
15	chr4:74122400-74125800	Active TSS	Ovary	ovary
16	chr4:74122400-74126000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:74122400-74126000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:74122400-74126000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:74122400-74126000	Active TSS	Colonic Mucosa	Colon
20	chr4:74122400-74126200	Active TSS	NHLF	lung
21	chr4:74122400-74126600	Active TSS	GM12878-XiMat	blood
22	chr4:74122600-74124200	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr4:74122600-74125400	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr4:74122600-74125400	Active TSS	Thymus	Thymus
25	chr4:74122600-74125800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr4:74122600-74125800	Active TSS	Fetal Muscle Leg	muscle
27	chr4:74122600-74125800	Active TSS	Fetal Thymus	thymus
28	chr4:74122600-74125800	Active TSS	A549	lung
29	chr4:74122600-74125800	Active TSS	HSMMtube	muscle
30	chr4:74122600-74125800	Active TSS	NHDF-Ad	bronchial
31	chr4:74122600-74126000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:74122600-74126400	Active TSS	Fetal Brain Male	brain
33	chr4:74122800-74125400	Active TSS	Brain Anterior Caudate	brain
34	chr4:74122800-74125600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:74122800-74125600	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr4:74122800-74125600	Active TSS	Fetal Brain Female	brain
37	chr4:74122800-74125800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:74122800-74125800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:74122800-74125800	Active TSS	Muscle Satellite Cultured Cells	--
40	chr4:74122800-74125800	Active TSS	Fetal Intestine Large	intestine
41	chr4:74122800-74125800	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr4:74122800-74125800	Active TSS	Fetal Lung	lung
43	chr4:74122800-74125800	Active TSS	Fetal Stomach	stomach
44	chr4:74122800-74125800	Active TSS	Hela-S3	cervix
45	chr4:74122800-74125800	Active TSS	K562	blood
46	chr4:74122800-74125800	Active TSS	NHEK	skin
47	chr4:74122800-74126000	Active TSS	H9 Cell Line	embryonic stem cell
48	chr4:74122800-74126000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:74122800-74126200	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr4:74122800-74126600	Active TSS	HUES48 Cell Line	embryonic stem cell

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