Variant report

Variant	rs531218361
Chromosome Location	chr1:84633604-84633605
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84633326..84636042-chr1:84640053..84642677,3	K562	blood:
2	chr1:84633326..84635826-chr1:84640053..84642677,3	K562	blood:
3	chr1:84540791..84543154-chr1:84633401..84635166,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv871731	chr1:84597396-84658591	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv871656	chr1:84601048-84693671	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv997601	chr1:84609346-84672859	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1005225	chr1:84609871-84667950	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1002537	chr1:84611207-84658450	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv999772	chr1:84611207-84667218	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1013911	chr1:84619164-84667950	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv871375	chr1:84622793-84678418	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv871643	chr1:84628655-84705481	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv871538	chr1:84633116-84717983	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84614000-84633800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:84615800-84634800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:84616200-84635200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:84622400-84635800	Weak transcription	Small Intestine	intestine
5	chr1:84623000-84639200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:84624000-84651800	Weak transcription	Thymus	Thymus
7	chr1:84625600-84635600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr1:84625800-84634000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:84627600-84635400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:84629200-84636400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr1:84629200-84654000	Weak transcription	Spleen	Spleen
12	chr1:84629400-84644400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:84629600-84633800	Active TSS	Brain Anterior Caudate	brain
14	chr1:84629600-84634000	Active TSS	Fetal Brain Female	brain
15	chr1:84630200-84634200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr1:84630600-84633800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:84630600-84635200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr1:84630600-84639800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:84630600-84640400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:84630800-84633800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:84630800-84648200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:84631000-84636400	Enhancers	Primary T cells from cord blood	blood
23	chr1:84631200-84633800	Weak transcription	Primary B cells from cord blood	blood
24	chr1:84632400-84634400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:84632600-84635400	Weak transcription	HUVEC	blood vessel
26	chr1:84632600-84647800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:84632800-84633800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:84632800-84633800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:84632800-84633800	Weak transcription	Brain Substantia Nigra	brain
30	chr1:84632800-84634000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:84632800-84636000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:84632800-84647400	Weak transcription	Dnd41	blood
33	chr1:84633000-84633800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:84633000-84633800	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:84633000-84634000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:84633000-84634800	Enhancers	Brain Angular Gyrus	brain
37	chr1:84633000-84648400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:84633000-84649600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:84633400-84634600	Enhancers	Brain Cingulate Gyrus	brain
40	chr1:84633600-84633800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr1:84633600-84635200	Enhancers	Fetal Brain Male	brain
42	chr1:84633600-84635400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr1:84633600-84636400	Enhancers	Pancreatic Islets	Pancreatic Islet

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