Variant report

Variant	rs697843
Chromosome Location	chr1:226814778-226814779
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226595295..226597019-chr1:226813478..226815614,2	K562	blood:
2	chr1:226813241..226815997-chr11:42078733..42081307,2	K562	blood:
3	chr1:226814548..226816082-chr1:226822022..226824238,2	K562	blood:
4	chr1:226814100..226814798-chr1:227015543..227016441,4	K562	blood:

Variant related genes	Relation type
ENSG00000143799	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10495246	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1144838	1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1144839	1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1144840	1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1151804	1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17522524	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17588687	0.91[CHB][hapmap];0.84[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3768376	0.90[CHB][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes]
rs3820635	0.90[CHB][hapmap];0.92[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3820637	0.91[CHB][hapmap];0.88[EUR][1000 genomes]
rs7533764	0.83[EUR][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	nsv470779	chr1:226778432-226833304	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226806200-226825800	Weak transcription	Right Atrium	heart
2	chr1:226810600-226822600	Weak transcription	Gastric	stomach
3	chr1:226812400-226817800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:226813200-226814800	Enhancers	Fetal Brain Male	brain
5	chr1:226813800-226815000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr1:226813800-226815400	Enhancers	Primary B cells from cord blood	blood
7	chr1:226813800-226817000	Enhancers	Colon Smooth Muscle	Colon
8	chr1:226813800-226817200	Weak transcription	Lung	lung
9	chr1:226814000-226814800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:226814000-226814800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:226814000-226814800	Enhancers	Adipose Nuclei	Adipose
12	chr1:226814000-226814800	Enhancers	Brain Anterior Caudate	brain
13	chr1:226814000-226814800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
14	chr1:226814000-226814800	Enhancers	Fetal Stomach	stomach
15	chr1:226814000-226814800	Enhancers	Fetal Thymus	thymus
16	chr1:226814000-226814800	Weak transcription	Thymus	Thymus
17	chr1:226814000-226815000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:226814000-226815000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:226814000-226815000	Enhancers	Brain Cingulate Gyrus	brain
20	chr1:226814000-226815000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:226814000-226815000	Enhancers	Brain Substantia Nigra	brain
22	chr1:226814000-226815000	Enhancers	Ovary	ovary
23	chr1:226814000-226815000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:226814000-226815000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:226814000-226815200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:226814000-226815200	Enhancers	Duodenum Mucosa	Duodenum
27	chr1:226814000-226815400	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr1:226814000-226816000	Enhancers	GM12878-XiMat	blood
29	chr1:226814000-226817200	Enhancers	Fetal Muscle Leg	muscle
30	chr1:226814000-226817600	Weak transcription	Spleen	Spleen
31	chr1:226814200-226814800	Enhancers	Stomach Mucosa	stomach
32	chr1:226814200-226815000	Enhancers	Colonic Mucosa	Colon
33	chr1:226814200-226815000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr1:226814200-226815000	Enhancers	Fetal Brain Female	brain
35	chr1:226814200-226819400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr1:226814200-226820600	Weak transcription	Right Ventricle	heart
37	chr1:226814200-226821400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:226814200-226823600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:226814200-226837600	Weak transcription	HUVEC	blood vessel
40	chr1:226814400-226814800	Enhancers	Primary T cells from cord blood	blood
41	chr1:226814400-226814800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:226814400-226814800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:226814400-226814800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr1:226814400-226814800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:226814400-226815000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr1:226814400-226815000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr1:226814400-226815000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:226814400-226815000	Enhancers	Rectal Smooth Muscle	rectum
49	chr1:226814400-226815200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr1:226814400-226815200	Bivalent Enhancer	HepG2	liver

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