Variant report

Variant	rs9661927
Chromosome Location	chr1:211552014-211552015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:211552006-211552808	SK-N-SH	brain:	n/a	chr1:211552354-211552363
2	ZNF384	chr1:211551986-211552405	K562	blood:	n/a	n/a
3	PBX3	chr1:211552004-211552687	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:211549223..211553785-chr1:211553930..211558847,10	K562	blood:
2	chr1:211545301..211548171-chr1:211550242..211553201,2	K562	blood:
3	chr1:211430955..211432511-chr1:211549892..211552322,2	K562	blood:
4	chr1:211534598..211538715-chr1:211551456..211555118,6	K562	blood:
5	chr1:211542001..211543533-chr1:211550830..211553086,2	MCF-7	breast:
6	chr1:211542319..211548394-chr1:211548704..211553201,8	K562	blood:

No data

Variant related genes	Relation type
LINC00467	TF binding region
ENSG00000153363	Chromatin interaction
ENSG00000117625	Chromatin interaction
ENSG00000082512	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56114647	0.84[AFR][1000 genomes]
rs58281296	0.86[AFR][1000 genomes]
rs58393607	0.84[AFR][1000 genomes]
rs74137663	0.92[AFR][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	esv2762141	chr1:211538685-211603843	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211510600-211555400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:211514800-211552200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:211515000-211555000	Weak transcription	Hela-S3	cervix
4	chr1:211515000-211555800	Weak transcription	Esophagus	oesophagus
5	chr1:211521600-211555200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:211525000-211555600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:211525400-211555000	Weak transcription	Fetal Lung	lung
8	chr1:211526600-211555400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:211528800-211554600	Weak transcription	Psoas Muscle	Psoas
10	chr1:211530200-211555800	Weak transcription	Pancreas	Pancrea
11	chr1:211530400-211555200	Weak transcription	Brain Anterior Caudate	brain
12	chr1:211530600-211555600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:211533800-211554800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:211534600-211555800	Weak transcription	Gastric	stomach
15	chr1:211535000-211555000	Weak transcription	A549	lung
16	chr1:211535400-211555800	Weak transcription	Left Ventricle	heart
17	chr1:211539800-211555400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:211540800-211555400	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:211543200-211555800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:211544200-211555600	Weak transcription	Colonic Mucosa	Colon
21	chr1:211544600-211552800	Strong transcription	Primary T cells from cord blood	blood
22	chr1:211545400-211555400	Weak transcription	HUVEC	blood vessel
23	chr1:211545800-211555200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:211546000-211555000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:211546200-211555400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:211547800-211555600	Weak transcription	Fetal Intestine Large	intestine
27	chr1:211548000-211555600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:211548000-211555600	Weak transcription	Ovary	ovary
29	chr1:211548200-211555400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:211548200-211555400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:211548200-211555400	Weak transcription	Right Atrium	heart
32	chr1:211549000-211555400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:211549200-211555200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:211549200-211555400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:211549200-211555400	Weak transcription	Stomach Mucosa	stomach
36	chr1:211549200-211555800	Weak transcription	Spleen	Spleen
37	chr1:211549400-211555200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:211549600-211555800	Weak transcription	Lung	lung
39	chr1:211549800-211552600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:211549800-211555200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:211549800-211555600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:211550000-211552200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:211550000-211552600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:211550000-211552600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr1:211550000-211552600	Enhancers	Osteobl	bone
46	chr1:211550000-211552800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr1:211550000-211552800	Enhancers	K562	blood
48	chr1:211550000-211555600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:211550000-211555800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:211550200-211552400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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