Variant report

Variant	rs7542162
Chromosome Location	chr1:94341801-94341802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr1:94341762-94342067	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:94341699-94343563	K562	blood:	n/a	n/a
3	POLR2A	chr1:94341800-94342495	K562	blood:	n/a	n/a
4	POLR2A	chr1:94341781-94342397	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94332079..94335914-chr1:94341026..94344306,4	K562	blood:
2	chr1:94340857..94342610-chr1:94343304..94345726,2	K562	blood:
3	chr1:93811555..93814046-chr1:94339710..94342283,2	K562	blood:
4	chr1:94340990..94343514-chr1:94369991..94373741,3	K562	blood:
5	chr1:94340793..94342610-chr1:94344226..94345915,2	K562	blood:
6	chr1:94340612..94342966-chr1:94406740..94409371,2	K562	blood:
7	chr1:94341311..94342954-chr1:94373735..94375805,2	MCF-7	breast:

No data

Variant related genes	Relation type
DNTTIP2	TF binding region
ENSG00000223745	Chromatin interaction
ENSG00000023909	Chromatin interaction
ENSG00000067334	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17878450	1.00[AFR][1000 genomes]
rs17878692	1.00[AFR][1000 genomes]
rs17879533	0.81[AFR][1000 genomes]
rs17880789	1.00[AFR][1000 genomes]
rs6689857	0.90[AFR][1000 genomes]
rs6694884	1.00[AFR][1000 genomes]
rs7527855	0.90[AFR][1000 genomes]

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	esv3325380	chr1:94340814-94342475	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	esv3417654	chr1:94341407-94341891	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94322200-94343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:94329800-94343600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:94330600-94343600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:94332400-94342000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:94332800-94343200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:94332800-94343200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:94333000-94342000	Strong transcription	Fetal Brain Female	brain
8	chr1:94333200-94343200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:94333800-94343000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:94334000-94342000	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:94334000-94343000	Strong transcription	Fetal Thymus	thymus
12	chr1:94334000-94343400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:94334200-94342000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr1:94334200-94343200	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr1:94334200-94343200	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr1:94334200-94343200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:94334200-94343200	Strong transcription	Fetal Muscle Leg	muscle
18	chr1:94334200-94343400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:94334200-94343400	Strong transcription	Placenta	Placenta
20	chr1:94334400-94342000	Strong transcription	Brain Cingulate Gyrus	brain
21	chr1:94334400-94342200	Strong transcription	Brain Substantia Nigra	brain
22	chr1:94334400-94343200	Strong transcription	NH-A	brain
23	chr1:94334400-94343400	Weak transcription	Fetal Heart	heart
24	chr1:94334600-94342000	Strong transcription	NHDF-Ad	bronchial
25	chr1:94334600-94342000	Strong transcription	Osteobl	bone
26	chr1:94334600-94342800	Strong transcription	Brain Hippocampus Middle	brain
27	chr1:94334600-94342800	Strong transcription	HSMM	muscle
28	chr1:94334600-94343000	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr1:94334600-94343200	Strong transcription	Fetal Intestine Large	intestine
30	chr1:94334600-94343200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr1:94334600-94343400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr1:94337600-94342000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:94338400-94342200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:94338400-94343800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:94338600-94342000	Weak transcription	Right Atrium	heart
36	chr1:94338800-94342000	Strong transcription	NHLF	lung
37	chr1:94340000-94343200	Strong transcription	HSMMtube	muscle
38	chr1:94340200-94342000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:94340400-94343200	Weak transcription	Stomach Mucosa	stomach
40	chr1:94340400-94343800	Weak transcription	Aorta	Aorta
41	chr1:94340400-94344000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:94340600-94342000	Weak transcription	Colonic Mucosa	Colon
43	chr1:94340600-94342000	Weak transcription	Fetal Intestine Small	intestine
44	chr1:94340600-94342000	Weak transcription	Small Intestine	intestine
45	chr1:94340600-94343200	Weak transcription	Gastric	stomach
46	chr1:94340600-94343200	Weak transcription	Pancreas	Pancrea
47	chr1:94340600-94343200	Weak transcription	Spleen	Spleen
48	chr1:94340600-94343600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:94340600-94343600	Weak transcription	Lung	lung
50	chr1:94340600-94344000	Weak transcription	Esophagus	oesophagus

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