Variant report

Variant	rs73087695
Chromosome Location	chr1:227207358-227207359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227203892..227205446-chr1:227206792..227208982,2	K562	blood:
2	chr1:227204938..227208966-chr1:227211408..227214932,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11802565	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804315	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804924	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807511	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11807766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808055	1.00[EUR][1000 genomes]
rs11810417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846798	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846993	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847106	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847132	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1888829	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34413322	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35099852	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55947609	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56168464	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57717956	1.00[EUR][1000 genomes]
rs57895961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58077821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59396012	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59523055	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59945801	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61494318	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73086744	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087619	1.00[EUR][1000 genomes]
rs73087659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089703	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089763	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091744	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091778	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102913	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102948	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102965	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7411165	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140237	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74143320	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1005811	chr1:227196502-227215967	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1007352	chr1:227196502-227247160	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv997751	chr1:227196502-227263537	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1011654	chr1:227196502-227308416	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1010864	chr1:227199493-227246753	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1014423	chr1:227201253-227268843	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
2	chr1:227175200-227210200	Weak transcription	HMEC	breast
3	chr1:227175600-227216200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:227176000-227216400	Weak transcription	NHLF	lung
5	chr1:227177400-227255200	Weak transcription	Small Intestine	intestine
6	chr1:227178400-227271200	Weak transcription	Psoas Muscle	Psoas
7	chr1:227178600-227226200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:227179400-227215000	Weak transcription	Placenta	Placenta
9	chr1:227179600-227213800	Weak transcription	NH-A	brain
10	chr1:227182000-227216000	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:227182800-227224200	Weak transcription	Spleen	Spleen
12	chr1:227183200-227228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:227183200-227240400	Weak transcription	Colonic Mucosa	Colon
14	chr1:227184000-227214600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:227184000-227234000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:227184600-227208000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:227187200-227218600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:227189200-227207400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:227190600-227217000	Weak transcription	Esophagus	oesophagus
20	chr1:227190600-227223200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:227190600-227272600	Weak transcription	Lung	lung
22	chr1:227191200-227208200	Weak transcription	NHEK	skin
23	chr1:227191200-227214400	Weak transcription	Aorta	Aorta
24	chr1:227192600-227220200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:227192800-227208000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:227192800-227214200	Weak transcription	Right Ventricle	heart
27	chr1:227192800-227220200	Weak transcription	Gastric	stomach
28	chr1:227193000-227208000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:227194400-227208000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:227198800-227207600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:227198800-227207800	Weak transcription	Ovary	ovary
32	chr1:227201400-227210800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:227202200-227209200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:227202400-227208600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:227202400-227209000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:227202600-227207800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:227202600-227209000	Strong transcription	Brain Hippocampus Middle	brain
38	chr1:227202600-227217200	Strong transcription	Adipose Nuclei	Adipose
39	chr1:227202600-227222600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:227203000-227209000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:227203000-227278800	Weak transcription	Pancreas	Pancrea
42	chr1:227203200-227207400	Strong transcription	Osteobl	bone
43	chr1:227203200-227209200	Strong transcription	HUVEC	blood vessel
44	chr1:227203400-227207600	Weak transcription	Fetal Intestine Small	intestine
45	chr1:227203400-227207600	Weak transcription	Fetal Stomach	stomach
46	chr1:227204400-227209400	Strong transcription	HSMMtube	muscle
47	chr1:227204800-227208200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:227204800-227214400	Weak transcription	Brain Substantia Nigra	brain
49	chr1:227205000-227210400	Weak transcription	NHDF-Ad	bronchial
50	chr1:227205000-227210600	Strong transcription	Fetal Intestine Large	intestine

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