Variant report

Variant	rs146643984
Chromosome Location	chr1:197743785-197743786
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	MAX	chr1:197743630-197744337	A549	lung:	n/a	n/a
2	BHLHE40	chr1:197743783-197745381	K562	blood:	n/a	n/a
3	POLR2A	chr1:197743734-197744912	K562	blood:	n/a	n/a
4	MAX	chr1:197743690-197745561	HepG2	liver:	n/a	chr1:197745220-197745230
5	MAX	chr1:197743681-197745481	K562	blood:	n/a	chr1:197745220-197745230
6	POLR2A	chr1:197743704-197745714	K562	blood:	n/a	n/a
7	SIN3A	chr1:197743758-197745354	H1-hESC	embryonic stem cell:	n/a	chr1:197744203-197744216
8	POLR2A	chr1:197743671-197744594	HUVEC	blood vessel:	n/a	n/a
9	MAX	chr1:197743590-197745268	A549	lung:	n/a	chr1:197745220-197745230
10	MAX	chr1:197743683-197745774	Hela-S3	cervix:	n/a	chr1:197745220-197745230
11	UBTF	chr1:197743645-197745592	K562	blood:	n/a	n/a
12	HCFC1	chr1:197743730-197745300	K562	blood:	n/a	n/a
13	POLR2A	chr1:197743760-197744060	GM12891	blood:	n/a	n/a
14	POLR2A	chr1:197743726-197744907	K562	blood:	n/a	n/a
15	ZNF263	chr1:197743691-197745395	HEK293-T-REx	kidney:	n/a	n/a
16	REST	chr1:197743443-197745086	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr1:197743750-197745101	Hela-S3	cervix:	n/a	n/a
18	NR2F2	chr1:197743542-197744155	K562	blood:	n/a	n/a
19	TBP	chr1:197743692-197745360	K562	blood:	n/a	n/a
20	SIN3AK20	chr1:197743752-197744773	K562	blood:	n/a	n/a
21	ZBTB7A	chr1:197743785-197744930	K562	blood:	n/a	n/a
22	MAX	chr1:197743741-197744134	K562	blood:	n/a	n/a
23	MAZ	chr1:197743578-197745343	K562	blood:	n/a	n/a
24	RUNX3	chr1:197743721-197744071	GM12878	blood:	n/a	n/a
25	MAX	chr1:197743657-197745664	HCT-116	colon:	n/a	chr1:197745220-197745230
26	POLR2A	chr1:197743733-197744236	H1-neurons	neurons:	n/a	n/a
27	IRF1	chr1:197743103-197743820	K562	blood:	n/a	chr1:197743534-197743541
28	BRCA1	chr1:197743009-197743971	Hela-S3	cervix:	n/a	n/a
29	MAX	chr1:197743744-197745400	HepG2	liver:	n/a	chr1:197745220-197745230
30	POLR2A	chr1:197743775-197744208	Hela-S3	cervix:	n/a	n/a
31	ETS1	chr1:197743716-197744761	K562	blood:	n/a	n/a
32	POLR2A	chr1:197743758-197745667	Raji	blood:	n/a	n/a
33	MYC	chr1:197743696-197746079	NB4	blood:	n/a	chr1:197745220-197745230
34	POLR2A	chr1:197743642-197744830	MCF10A-Er-Src	breast:	n/a	n/a
35	RUNX3	chr1:197743673-197744156	GM12878	blood:	n/a	n/a
36	RFX5	chr1:197743727-197743866	HepG2	liver:	n/a	n/a
37	POLR2A	chr1:197743744-197745336	ProgFib	skin:	n/a	n/a
38	MAX	chr1:197743662-197746028	NB4	blood:	n/a	chr1:197745220-197745230
39	POLR2A	chr1:197743770-197745027	MCF-7	breast:	n/a	n/a
40	ELF1	chr1:197743763-197744998	GM12878	blood:	n/a	chr1:197744184-197744193 chr1:197744610-197744623
41	HA-E2F1	chr1:197743696-197745403	MCF-7	breast:	n/a	chr1:197744187-197744196
42	MXI1	chr1:197743641-197744078	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr1:197743756-197743977	GM12891	blood:	n/a	n/a
44	MYC	chr1:197743658-197745507	K562	blood:	n/a	chr1:197745220-197745230
45	POLR2A	chr1:197743695-197744600	HUVEC	blood vessel:	n/a	n/a
46	MAX	chr1:197743691-197745535	K562	blood:	n/a	chr1:197745220-197745230
47	MAX	chr1:197743732-197745498	MCF-7	breast:	n/a	chr1:197745220-197745230
48	TAF1	chr1:197743741-197744777	K562	blood:	n/a	n/a
49	RAD21	chr1:197743649-197744316	IMR90	lung:	n/a	n/a
50	PML	chr1:197743748-197746042	GM12878	blood:	n/a	chr1:197745747-197745756

No.	Distal block	Cell Line	Cell type
1	chr1:197740776..197744504-chr1:197869951..197872253,3	K562	blood:
2	chr1:197743551..197744408-chr17:7591641..7592156,2	NB4	blood:
3	chr1:197742347..197745266-chr1:197870109..197873225,5	MCF-7	breast:
4	chr1:197743169..197745443-chr1:197870802..197873145,4	MCF-7	breast:

Variant related genes	Relation type
DENND1B	TF binding region
ENSG00000141499	Chromatin interaction
ENSG00000203724	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv3442149	chr1:197743379-197745627	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197702800-197743800	Weak transcription	Esophagus	oesophagus
2	chr1:197714400-197743800	Weak transcription	Spleen	Spleen
3	chr1:197719200-197743800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:197735200-197743800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:197740400-197743800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:197742000-197743800	Weak transcription	Left Ventricle	heart
7	chr1:197742000-197743800	Weak transcription	Lung	lung
8	chr1:197742000-197743800	Weak transcription	Pancreas	Pancrea
9	chr1:197742200-197743800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr1:197742200-197743800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:197742400-197743800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr1:197742400-197744000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:197742400-197744000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:197742400-197744000	Active TSS	Right Atrium	heart
15	chr1:197742400-197744800	Active TSS	Colonic Mucosa	Colon
16	chr1:197742400-197745000	Active TSS	Brain Anterior Caudate	brain
17	chr1:197742400-197745000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr1:197742600-197743800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:197742600-197743800	Weak transcription	Gastric	stomach
20	chr1:197742600-197743800	Weak transcription	Small Intestine	intestine
21	chr1:197742600-197743800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr1:197742600-197743800	Flanking Active TSS	Osteobl	bone
23	chr1:197742600-197744600	Active TSS	Thymus	Thymus
24	chr1:197742600-197744800	Active TSS	K562	blood
25	chr1:197742600-197744800	Active TSS	NHLF	lung
26	chr1:197742600-197745000	Active TSS	Aorta	Aorta
27	chr1:197742800-197743800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr1:197742800-197743800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:197742800-197743800	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr1:197742800-197744000	Flanking Active TSS	HUVEC	blood vessel
31	chr1:197742800-197744600	Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr1:197742800-197744600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:197742800-197744600	Active TSS	Fetal Thymus	thymus
34	chr1:197742800-197744600	Active TSS	GM12878-XiMat	blood
35	chr1:197742800-197744800	Active TSS	Duodenum Mucosa	Duodenum
36	chr1:197742800-197744800	Active TSS	Fetal Stomach	stomach
37	chr1:197742800-197744800	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr1:197743000-197743800	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr1:197743000-197743800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr1:197743000-197743800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr1:197743000-197743800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:197743000-197744000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr1:197743000-197744600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:197743000-197744600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:197743000-197744600	Active TSS	Primary T cells fromperipheralblood	blood
46	chr1:197743000-197744600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:197743000-197744600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:197743000-197744600	Active TSS	NHEK	skin
49	chr1:197743000-197744800	Active TSS	Fetal Muscle Leg	muscle
50	chr1:197743000-197744800	Active TSS	Rectal Mucosa Donor 31	rectum

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