Variant report

Variant	rs9426254
Chromosome Location	chr1:246832757-246832758
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	chr1:246704378..246705938-chr1:246830141..246833108,2	K562	blood:
2	chr1:246811207..246813895-chr1:246830093..246833035,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11586702	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12117791	1.00[ASN][1000 genomes]
rs12119414	1.00[ASN][1000 genomes]
rs12121655	1.00[ASN][1000 genomes]
rs12122261	1.00[ASN][1000 genomes]
rs12126135	1.00[ASN][1000 genomes]
rs12130507	1.00[ASN][1000 genomes]
rs12134535	1.00[ASN][1000 genomes]
rs12728036	1.00[ASN][1000 genomes]
rs12728813	1.00[ASN][1000 genomes]
rs12734241	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12750060	1.00[ASN][1000 genomes]
rs34385126	1.00[ASN][1000 genomes]
rs34471048	1.00[ASN][1000 genomes]
rs34695209	1.00[ASN][1000 genomes]
rs35795797	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61852409	1.00[ASN][1000 genomes]
rs61852424	1.00[ASN][1000 genomes]
rs61852425	1.00[ASN][1000 genomes]
rs6658593	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6669532	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687128	1.00[ASN][1000 genomes]
rs6701305	1.00[ASN][1000 genomes]
rs6704469	1.00[ASN][1000 genomes]
rs9426208	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948348	chr1:246090818-246853200	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1013800	chr1:246472691-246840960	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv535409	chr1:246472691-246840960	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1002805	chr1:246608164-246890518	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv535413	chr1:246608164-246890518	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1010316	chr1:246686301-246840960	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv535414	chr1:246686301-246840960	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv528615	chr1:246708467-246843315	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1005214	chr1:246730885-246841107	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1002595	chr1:246774036-246846548	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1007194	chr1:246813090-246855424	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
16	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246755400-246832800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:246784200-246833800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:246789200-246839200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:246801600-246842800	Weak transcription	Fetal Kidney	kidney
5	chr1:246804200-246833400	Strong transcription	Liver	Liver
6	chr1:246804600-246833800	Strong transcription	Primary T cells from cord blood	blood
7	chr1:246804800-246834200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:246805400-246837600	Weak transcription	Small Intestine	intestine
9	chr1:246811000-246835000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:246811200-246835400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:246811200-246837400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:246811400-246837400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:246811800-246841000	Weak transcription	Hela-S3	cervix
14	chr1:246814800-246834000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:246815200-246834400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:246816800-246833200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr1:246817800-246837400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:246817800-246837800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:246817800-246842600	Weak transcription	HSMMtube	muscle
20	chr1:246819000-246832800	Weak transcription	Fetal Brain Male	brain
21	chr1:246820800-246833000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:246820800-246833600	Weak transcription	Brain Germinal Matrix	brain
23	chr1:246822200-246845200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:246822400-246843000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:246823000-246833800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:246823200-246832800	Strong transcription	Fetal Thymus	thymus
27	chr1:246824800-246834600	Strong transcription	Primary B cells from cord blood	blood
28	chr1:246825600-246835200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:246825600-246843000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:246827200-246833400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr1:246828400-246833400	Strong transcription	Placenta	Placenta
32	chr1:246828400-246833800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:246828400-246833800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:246828600-246833200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:246828600-246833800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:246828800-246833200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:246828800-246833800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:246828800-246833800	Strong transcription	K562	blood
39	chr1:246829000-246833000	Strong transcription	NHDF-Ad	bronchial
40	chr1:246829200-246834400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr1:246829400-246844000	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:246829600-246832800	Weak transcription	Brain Substantia Nigra	brain
43	chr1:246829600-246835000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:246829600-246843000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:246829600-246845200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:246829800-246833200	Weak transcription	HUVEC	blood vessel
47	chr1:246829800-246840000	Weak transcription	Colonic Mucosa	Colon
48	chr1:246829800-246842400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:246829800-246842800	Weak transcription	HSMM	muscle
50	chr1:246829800-246843000	Weak transcription	Brain Hippocampus Middle	brain

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