Variant report

Variant	rs327196
Chromosome Location	chr1:120568610-120568611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120566762..120568761-chr1:149223826..149226751,2	K562	blood:

Variant related genes	Relation type
ENSG00000206737	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10127888	0.83[CEU][hapmap]
rs10494235	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10923926	1.00[CEU][hapmap]
rs10923931	0.83[CEU][hapmap]
rs1493694	0.83[CEU][hapmap]
rs1493695	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs1493696	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs2453040	0.84[CEU][hapmap]
rs2453044	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs2453056	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2453058	0.83[CEU][hapmap]
rs2487568	0.91[CEU][hapmap]
rs2493389	0.83[CEU][hapmap]
rs2493391	0.84[CEU][hapmap]
rs2493392	0.83[CEU][hapmap]
rs2493394	0.84[CEU][hapmap]
rs2493410	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2493411	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2493420	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2641316	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2641317	0.83[CEU][hapmap]
rs2793829	0.83[CEU][hapmap]
rs2793830	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2793831	0.83[CEU][hapmap]
rs2934381	0.83[CEU][hapmap]
rs2934387	0.83[CEU][hapmap]
rs327194	0.82[CEU][hapmap]
rs390548	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4659250	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs5025718	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6688004	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs699780	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7515431	0.83[CEU][hapmap]
rs7534585	0.84[CEU][hapmap]
rs7534586	0.83[CEU][hapmap]
rs835573	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs835574	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs947273	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]

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	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1816057	chr1:120469050-120697156	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1818054	chr1:120469050-120697156	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv1844863	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv1850218	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv427730	chr1:120469050-120697156	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120533400-120575000	Weak transcription	NHEK	skin
2	chr1:120533400-120578200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:120544400-120575000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:120545800-120578200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:120548200-120579800	Weak transcription	Spleen	Spleen
6	chr1:120556000-120573800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:120558400-120568800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:120558400-120570000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:120558400-120570800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:120558400-120572000	Weak transcription	Fetal Thymus	thymus
11	chr1:120558400-120574000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:120558400-120578600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:120558600-120574200	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:120558800-120579400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:120559400-120579400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:120560000-120570600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:120560000-120573800	Weak transcription	Pancreas	Pancrea
18	chr1:120560000-120574000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:120560000-120579400	Weak transcription	NH-A	brain
20	chr1:120560200-120577800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:120560200-120577800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:120560200-120578200	Weak transcription	Ovary	ovary
23	chr1:120561600-120574000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:120562000-120578200	Weak transcription	HSMMtube	muscle
25	chr1:120562200-120577400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:120563600-120577800	Weak transcription	Fetal Heart	heart
27	chr1:120564000-120569000	Weak transcription	Osteobl	bone
28	chr1:120564000-120569800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:120564000-120570000	Weak transcription	HSMM	muscle
30	chr1:120564000-120572600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:120564000-120572600	Weak transcription	NHDF-Ad	bronchial
32	chr1:120564000-120573800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:120564000-120579200	Weak transcription	NHLF	lung
34	chr1:120564000-120579400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:120564000-120579400	Weak transcription	Fetal Kidney	kidney
36	chr1:120564000-120610800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:120566400-120569200	Enhancers	Fetal Lung	lung
38	chr1:120566400-120572800	Weak transcription	Hela-S3	cervix
39	chr1:120566600-120568800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr1:120566600-120568800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr1:120566600-120568800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr1:120566600-120568800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr1:120566800-120568800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr1:120566800-120579200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:120567000-120573800	Weak transcription	HMEC	breast
46	chr1:120567000-120574200	Weak transcription	Esophagus	oesophagus
47	chr1:120567000-120574800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:120567000-120580200	Weak transcription	Colonic Mucosa	Colon
49	chr1:120567200-120573800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:120567200-120575200	Weak transcription	Aorta	Aorta

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