Variant report

Variant	rs149231943
Chromosome Location	chr1:76080702-76080703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:76080193-76080985	HepG2	liver:	n/a	n/a
2	BACH1	chr1:76080097-76080757	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr1:76080153-76080901	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:76080391-76082524	H1-neurons	neurons:	n/a	n/a
5	CTCF	chr1:76080237-76080790	A549	lung:	n/a	n/a
6	CTCF	chr1:76080420-76080721	H1-hESC	embryonic stem cell:	n/a	n/a
7	TBP	chr1:76080382-76080803	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr1:76080443-76080724	MCF-7	breast:	n/a	n/a
9	CTCF	chr1:76080406-76080755	GM12878	blood:	n/a	n/a
10	MAX	chr1:76080351-76080805	A549	lung:	n/a	n/a
11	MAX	chr1:76080235-76080911	A549	lung:	n/a	n/a
12	CTBP2	chr1:76080347-76082590	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr1:76080143-76080806	H1-hESC	embryonic stem cell:	n/a	chr1:76080640-76080654
14	CTCF	chr1:76080429-76080756	MCF-7	breast:	n/a	n/a
15	GABPA	chr1:76080373-76080914	K562	blood:	n/a	chr1:76080666-76080675
16	MYC	chr1:76080339-76080702	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F6	chr1:76080152-76080836	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr1:76080473-76080703	GM12878	blood:	n/a	chr1:76080640-76080654
19	SIN3AK20	chr1:76080298-76080723	SK-N-SH	brain:	n/a	n/a
20	CTCF	chr1:76080412-76080720	Gliobla	brain:	n/a	n/a
21	CTCF	chr1:76080433-76080721	IMR90	lung:	n/a	n/a
22	SP4	chr1:76080310-76080844	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr1:76080440-76080708	MCF-7	breast:	n/a	n/a
24	HDAC2	chr1:76080382-76080705	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZNF143	chr1:76080252-76080726	K562	blood:	n/a	n/a
26	YY1	chr1:76080342-76080895	HepG2	liver:	n/a	n/a
27	RAD21	chr1:76080130-76080769	SK-N-SH_RA	brain:	n/a	chr1:76080640-76080654
28	MXI1	chr1:76078645-76082977	SK-N-SH	brain:	n/a	chr1:76080753-76080768
29	POLR2A	chr1:76080399-76081446	H1-neurons	neurons:	n/a	n/a
30	CTCF	chr1:76080660-76080810	A549	lung:	n/a	n/a
31	YY1	chr1:76080461-76080709	GM12878	blood:	n/a	n/a
32	SIN3A	chr1:76080355-76082876	H1-hESC	embryonic stem cell:	n/a	chr1:76082041-76082052 chr1:76081480-76081491 chr1:76082671-76082679
33	CHD2	chr1:76080382-76080944	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr1:76080408-76080765	MCF-7	breast:	n/a	n/a
35	ZNF263	chr1:76080142-76082928	HEK293-T-REx	kidney:	n/a	chr1:76081515-76081524
36	CHD2	chr1:76080646-76080799	K562	blood:	n/a	n/a
37	RAD21	chr1:76080401-76080705	SK-N-SH_RA	brain:	n/a	chr1:76080640-76080654
38	CTCF	chr1:76080389-76080744	K562	blood:	n/a	n/a
39	MXI1	chr1:76080415-76080736	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr1:76080348-76080720	HepG2	liver:	n/a	chr1:76080640-76080654
41	CTCF	chr1:76080281-76080779	K562	blood:	n/a	n/a
42	CTCF	chr1:76080088-76080755	K562	blood:	n/a	n/a
43	MAX	chr1:76080313-76080804	SK-N-SH	brain:	n/a	n/a
44	GATA2	chr1:76080123-76081871	SH-SY5Y	brain:	n/a	n/a
45	TCF12	chr1:76080462-76080799	H1-hESC	embryonic stem cell:	n/a	n/a
46	SIN3AK20	chr1:76080469-76081027	H1-hESC	embryonic stem cell:	n/a	n/a
47	YY1	chr1:76080353-76081003	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr1:76080459-76080734	ProgFib	skin:	n/a	n/a
49	CTCF	chr1:76080680-76080830	WI-38	lung:	n/a	n/a
50	KAP1	chr1:76080001-76080860	U2OS	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:76080684-76080734	RPTEC	kidney:	n/a
2	chr1:76080684-76080734	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:76080684-76080734	HEEpiC	esophagus:	n/a
4	chr1:76080684-76080734	GM19239	blood:	n/a
5	chr1:76080684-76080734	NB4	blood:	n/a
6	chr1:76080684-76080734	HRE	kidney:	n/a
7	chr1:76080684-76080734	HRCEpiC	kidney:	n/a
8	chr1:76080684-76080734	GM12892	blood:	n/a
9	chr1:76080684-76080734	HCT-116	colon:	n/a
10	chr1:76080684-76080734	NHBE	bronchial:	n/a
11	chr1:76080684-76080734	ovcar-3	ovarian:	n/a
12	chr1:76080684-76080734	Hela-S3	cervix:	n/a
13	chr1:76080684-76080734	Jurkat	blood:	n/a
14	chr1:76080684-76080734	GM06990	blood:	n/a
15	chr1:76080684-76080734	HNPCEpiC	eye:	n/a
16	chr1:76080684-76080734	HL-60	blood:	n/a
17	chr1:76080684-76080734	IMR90	lung:	fetal
18	chr1:76080684-76080734	BE2_C	brain:	n/a
19	chr1:76080684-76080734	T-47D	breast:	n/a
20	chr1:76080684-76080734	PFSK-1	brain:	n/a
21	chr1:76080684-76080734	PANC-1	pancreas:	n/a
22	chr1:76080684-76080734	A549	lung:	n/a
23	chr1:76080684-76080734	AG10803	skin:	n/a
24	chr1:76080684-76080734	AG04449	skin:	fetal
25	chr1:76080684-76080734	HCM	heart:	n/a
26	chr1:76080684-76080734	MCF10A-Er-Src	breast:	n/a
27	chr1:76080684-76080734	HCPEpiC	choroid plexus:	n/a
28	chr1:76080684-76080734	BJ	skin:	n/a
29	chr1:76080684-76080734	U87	brain:	n/a
30	chr1:76080684-76080734	HMEC	breast:	n/a
31	chr1:76080684-76080734	AG04450	lung:	fetal
32	chr1:76080684-76080734	NH-A	brain:	n/a
33	chr1:76080684-76080734	H1-hESC	embryonic stem cell:	embryo
34	chr1:76080684-76080734	NHDF-neo	bronchial:	n/a
35	chr1:76080684-76080734	HUVEC	blood vessel:	n/a
36	chr1:76080684-76080734	ProgFib	skin:	n/a
37	chr1:76080684-76080734	K562	blood:	n/a
38	chr1:76080684-76080734	CMK	blood:	n/a
39	chr1:76080684-76080734	SK-N-SH_RA	brain:	n/a
40	chr1:76080684-76080734	SK-N-SH	brain:	n/a
41	chr1:76080684-76080734	Caco-2	colon:	n/a
42	chr1:76080684-76080734	HAEpiC	amniotic membrane:	n/a
43	chr1:76080684-76080734	GM12878	blood:	n/a
44	chr1:76080684-76080734	GM12891	blood:	n/a
45	chr1:76080684-76080734	NT2-D1	testis:	n/a
46	chr1:76080684-76080734	HEK293	kidney:	embryo
47	chr1:76080684-76080734	SK-N-MC	brain:	n/a
48	chr1:76080684-76080734	SAEC	small airway:	n/a
49	chr1:76080684-76080734	HepG2	liver:	n/a
50	chr1:76080684-76080734	HIPEpiC	eye:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:76070009..76076148-chr1:76078248..76081967,7	K562	blood:
2	chr1:76071710..76074403-chr1:76079679..76081378,2	K562	blood:
3	chr1:76079907..76082887-chr11:62607623..62609125,2	K562	blood:
4	chr1:76080604..76083289-chr1:76094142..76096069,2	K562	blood:
5	chr1:76079906..76082887-chr11:62607618..62609123,2	K562	blood:
6	chr1:76080033..76082466-chr1:76250224..76251859,2	MCF-7	breast:
7	chr1:76079591..76081611-chr1:76189875..76191572,2	MCF-7	breast:
8	chr1:76066835..76069254-chr1:76079406..76081859,2	MCF-7	breast:
9	chr1:76079931..76081989-chr1:76083963..76086787,2	K562	blood:

No data

Variant related genes	Relation type
SLC44A5	TF binding region
SLC44A5	CpG island
ENSG00000133316	Chromatin interaction
ENSG00000117054	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv3445096	chr1:75933216-76126980	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv427675	chr1:76070382-76187748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv10284	chr1:76079955-76082780	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 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	chr1:76079400-76081400	Active TSS	Fetal Brain Male	brain
2	chr1:76079800-76081200	Active TSS	Fetal Brain Female	brain
3	chr1:76079800-76082200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr1:76079800-76082600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:76080000-76081400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr1:76080000-76082000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:76080000-76082200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:76080000-76082400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr1:76080000-76082600	Active TSS	Brain Anterior Caudate	brain
10	chr1:76080000-76082800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr1:76080000-76082800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:76080200-76080800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:76080200-76080800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:76080200-76080800	Bivalent Enhancer	Lung	lung
15	chr1:76080200-76081000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr1:76080200-76081000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
17	chr1:76080200-76081000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
18	chr1:76080200-76081000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
19	chr1:76080200-76081000	Flanking Active TSS	Pancreas	Pancrea
20	chr1:76080200-76081000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
21	chr1:76080200-76081000	Flanking Active TSS	Right Ventricle	heart
22	chr1:76080200-76081000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
23	chr1:76080200-76081000	Bivalent Enhancer	Spleen	Spleen
24	chr1:76080200-76081200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr1:76080200-76081200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
26	chr1:76080200-76081200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
27	chr1:76080200-76081200	Bivalent Enhancer	Placenta	Placenta
28	chr1:76080200-76081400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:76080200-76081400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
30	chr1:76080200-76081400	Bivalent Enhancer	Fetal Thymus	thymus
31	chr1:76080200-76081400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
32	chr1:76080200-76081400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
33	chr1:76080200-76081400	Flanking Bivalent TSS/Enh	Dnd41	blood
34	chr1:76080200-76081400	Flanking Active TSS	HUVEC	blood vessel
35	chr1:76080200-76081600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
36	chr1:76080200-76081600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr1:76080200-76081800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:76080200-76081800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:76080200-76081800	Bivalent/Poised TSS	A549	lung
40	chr1:76080200-76082000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:76080200-76082200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:76080200-76082200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr1:76080200-76082400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:76080200-76082800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr1:76080200-76083000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr1:76080400-76080800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:76080400-76080800	Active TSS	Brain Germinal Matrix	brain
48	chr1:76080400-76080800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
49	chr1:76080400-76080800	Active TSS	Fetal Heart	heart
50	chr1:76080400-76080800	Bivalent Enhancer	NHDF-Ad	bronchial

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