Variant report

Variant	rs73710445
Chromosome Location	chr7:98967208-98967209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:98967165-98967330	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:98966343-98967370	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr7:98966048-98968206	K562	blood:	n/a	n/a
4	POLR2A	chr7:98967201-98967210	K562	blood:	n/a	n/a
5	MAX	chr7:98967139-98967414	K562	blood:	n/a	n/a
6	BCL3	chr7:98967058-98967434	GM12878	blood:	n/a	n/a
7	BCL3	chr7:98967031-98967433	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:98967025-98967293	U87	brain:	n/a	n/a
9	NFATC1	chr7:98966993-98967451	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:98967167-98967269	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr7:98967118-98967298	K562	blood:	n/a	n/a
12	STAT5A	chr7:98967018-98967488	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:98967044-98967269	U87	brain:	n/a	n/a
14	PBX3	chr7:98967115-98967353	GM12878	blood:	n/a	n/a
15	NFATC1	chr7:98967045-98967495	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98965082..98967314-chr7:98975254..98977961,2	K562	blood:
2	chr7:98966478..98969149-chr7:98977868..98979453,2	MCF-7	breast:
3	chr7:98959822..98968172-chr7:98968902..98974586,14	MCF-7	breast:
4	chr7:98965945..98968124-chr7:99006948..99008608,2	MCF-7	breast:
5	chr7:98965968..98969529-chr7:98970611..98972525,4	K562	blood:
6	chr7:98966757..98974253-chr7:98988800..98995304,7	K562	blood:

No data

Variant related genes	Relation type
ARPC1B	TF binding region
ENSG00000106245	Chromatin interaction
ENSG00000130429	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs55668841	0.86[AFR][1000 genomes]
rs55942015	0.86[AFR][1000 genomes]
rs56104955	0.86[AFR][1000 genomes]
rs56145748	0.86[AFR][1000 genomes]
rs56992635	0.86[AFR][1000 genomes]
rs57467259	0.86[AFR][1000 genomes]
rs58586429	0.86[AFR][1000 genomes]
rs59346440	0.86[AFR][1000 genomes]
rs60206309	0.86[AFR][1000 genomes]
rs61085247	0.83[AFR][1000 genomes]
rs61283116	0.86[AFR][1000 genomes]
rs73709647	0.83[AFR][1000 genomes]
rs73710452	0.86[AFR][1000 genomes]
rs73710453	0.86[AFR][1000 genomes]
rs73711210	0.86[AFR][1000 genomes]
rs73711213	0.86[AFR][1000 genomes]
rs73711216	0.86[AFR][1000 genomes]
rs73711218	0.86[AFR][1000 genomes]
rs73711277	0.86[AFR][1000 genomes]
rs73711278	0.86[AFR][1000 genomes]
rs73711284	0.86[AFR][1000 genomes]
rs73711289	0.86[AFR][1000 genomes]
rs73713510	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98924600-98971600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:98930000-98968200	Strong transcription	Fetal Intestine Small	intestine
3	chr7:98930200-98968400	Strong transcription	Fetal Stomach	stomach
4	chr7:98930800-98967600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:98935600-98971600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:98946400-98967600	Strong transcription	Stomach Smooth Muscle	stomach
7	chr7:98953800-98971600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:98955000-98971600	Weak transcription	Right Atrium	heart
9	chr7:98955600-98970200	Weak transcription	Fetal Brain Male	brain
10	chr7:98956200-98970400	Weak transcription	Stomach Mucosa	stomach
11	chr7:98958200-98970000	Weak transcription	Fetal Heart	heart
12	chr7:98959400-98970400	Weak transcription	Psoas Muscle	Psoas
13	chr7:98959400-98971600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:98960800-98968600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:98961200-98967400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:98961200-98971600	Weak transcription	Small Intestine	intestine
17	chr7:98961800-98967400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:98962200-98971600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:98962800-98970000	Weak transcription	Fetal Kidney	kidney
20	chr7:98962800-98971400	Weak transcription	Primary B cells from cord blood	blood
21	chr7:98964200-98970000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:98964400-98969000	Weak transcription	HepG2	liver
23	chr7:98964400-98970000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:98964400-98970200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:98964600-98967600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:98964600-98969200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:98964600-98970000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:98964600-98970600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:98964600-98971600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:98964600-98971600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:98964800-98970200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:98964800-98971400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:98964800-98971400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:98965000-98967800	Weak transcription	NHLF	lung
35	chr7:98965000-98969400	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:98965000-98970000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:98965000-98970000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr7:98965000-98970000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr7:98965000-98970000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr7:98965000-98970200	Weak transcription	Pancreas	Pancrea
41	chr7:98965000-98970200	Weak transcription	NH-A	brain
42	chr7:98965000-98970200	Weak transcription	NHDF-Ad	bronchial
43	chr7:98965000-98970400	Weak transcription	Fetal Lung	lung
44	chr7:98965000-98970800	Weak transcription	Primary T cells from cord blood	blood
45	chr7:98965000-98971400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr7:98965000-98971600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr7:98965000-98971600	Weak transcription	HMEC	breast
48	chr7:98965000-98971800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:98965000-98971800	Weak transcription	Brain Substantia Nigra	brain
50	chr7:98965200-98967400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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