Variant report

Variant	rs10912676
Chromosome Location	chr1:173709616-173709617
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10798295	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10912660	0.82[ASN][1000 genomes]
rs12057778	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12071594	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12071663	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12075071	0.82[ASN][1000 genomes]
rs1322770	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4606360	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57592568	0.82[ASN][1000 genomes]
rs6425254	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6696680	0.83[AMR][1000 genomes]
rs7515721	0.81[AMR][1000 genomes]
rs7542910	0.80[ASN][1000 genomes]
rs7544605	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7552939	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9425416	0.81[AMR][1000 genomes]
rs9425755	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9425766	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv3598	chr1:173693027-173738687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases
4	nsv946509	chr1:173703318-173711106	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173685000-173720800	Weak transcription	Small Intestine	intestine
2	chr1:173685200-173724600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:173685400-173725000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:173685800-173724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:173686800-173721600	Weak transcription	HUVEC	blood vessel
6	chr1:173686800-173721800	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:173686800-173725400	Weak transcription	Right Ventricle	heart
8	chr1:173691200-173710000	Weak transcription	Hela-S3	cervix
9	chr1:173694600-173724800	Weak transcription	HMEC	breast
10	chr1:173694800-173718400	Weak transcription	NHDF-Ad	bronchial
11	chr1:173695000-173718000	Weak transcription	A549	lung
12	chr1:173695400-173721600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:173695400-173726000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:173695600-173721000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:173695800-173710000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:173695800-173725000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:173695800-173726000	Weak transcription	Esophagus	oesophagus
18	chr1:173695800-173729800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:173696200-173726000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:173696600-173721000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:173696600-173723000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:173698000-173724800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:173699600-173725800	Weak transcription	Fetal Kidney	kidney
24	chr1:173703400-173715000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:173703400-173720800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:173703400-173721400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:173703400-173725000	Weak transcription	Colonic Mucosa	Colon
28	chr1:173703400-173725000	Weak transcription	Psoas Muscle	Psoas
29	chr1:173703400-173726000	Weak transcription	Aorta	Aorta
30	chr1:173703400-173726000	Weak transcription	Spleen	Spleen
31	chr1:173703400-173726000	Weak transcription	NHEK	skin
32	chr1:173703600-173724400	Weak transcription	Brain Substantia Nigra	brain
33	chr1:173703600-173724400	Weak transcription	GM12878-XiMat	blood
34	chr1:173703600-173724400	Weak transcription	HSMMtube	muscle
35	chr1:173703600-173724800	Weak transcription	Pancreas	Pancrea
36	chr1:173703800-173710000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:173703800-173728200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:173704200-173722200	Weak transcription	Osteobl	bone
39	chr1:173704200-173725000	Weak transcription	NHLF	lung
40	chr1:173704400-173709800	Weak transcription	Left Ventricle	heart
41	chr1:173704400-173710000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:173704400-173710200	Weak transcription	K562	blood
43	chr1:173704400-173710400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:173704400-173714600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:173704400-173721400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:173704400-173722200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:173704400-173724400	Weak transcription	Gastric	stomach
48	chr1:173704400-173725000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:173704400-173725200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr1:173704600-173709800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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