Variant report

Variant	rs17708312
Chromosome Location	chr1:210533514-210533515
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	SETDB1	chr1:210533119-210533609	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:210529252..210531698-chr1:210532960..210535588,2	MCF-7	breast:
2	chr1:210502542..210504337-chr1:210530347..210534050,4	MCF-7	breast:
3	chr1:210483500..210486425-chr1:210532842..210535734,2	MCF-7	breast:

Variant related genes	Relation type
HHAT	TF binding region
ENSG00000054392	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2273009	0.82[CEU][hapmap]
rs61828659	1.00[ASN][1000 genomes]
rs61829760	1.00[ASN][1000 genomes]
rs72749304	1.00[ASN][1000 genomes]
rs72749332	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210503600-210546800	Weak transcription	Fetal Intestine Small	intestine
2	chr1:210513000-210540400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:210516800-210534400	Weak transcription	Fetal Lung	lung
4	chr1:210517000-210534400	Weak transcription	HSMM	muscle
5	chr1:210517200-210534400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:210517200-210534400	Weak transcription	Brain Anterior Caudate	brain
7	chr1:210517200-210534600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:210517200-210535800	Weak transcription	Right Ventricle	heart
9	chr1:210517200-210536000	Weak transcription	Fetal Stomach	stomach
10	chr1:210517200-210536000	Weak transcription	Left Ventricle	heart
11	chr1:210517400-210534400	Weak transcription	Adipose Nuclei	Adipose
12	chr1:210517600-210536000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:210518600-210534400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:210521000-210534400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:210521200-210534400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:210521400-210534400	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:210522600-210537600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:210523000-210534400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:210525200-210538000	Weak transcription	Ovary	ovary
20	chr1:210526000-210534400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:210526200-210534600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:210527800-210534600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:210528400-210536600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:210529400-210534400	Weak transcription	Brain Substantia Nigra	brain
25	chr1:210529600-210586000	Weak transcription	Pancreas	Pancrea
26	chr1:210532000-210534400	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:210532200-210534600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:210532400-210534400	Weak transcription	Fetal Heart	heart
29	chr1:210532400-210540200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:210532400-210545800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:210532600-210533800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr1:210532600-210534400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:210532600-210534400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:210532600-210534400	Weak transcription	Stomach Mucosa	stomach
35	chr1:210532600-210540200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:210532800-210534200	Weak transcription	HepG2	liver
37	chr1:210532800-210534400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:210532800-210534400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:210532800-210534400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:210533000-210534400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:210533000-210534400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:210533000-210534400	Weak transcription	HSMMtube	muscle
43	chr1:210533200-210534200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:210533200-210534400	Weak transcription	Liver	Liver
45	chr1:210533200-210537800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:210533200-210540800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:210533400-210534400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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