Variant report

Variant	rs6702501
Chromosome Location	chr1:227623810-227623811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227503622..227506462-chr1:227622457..227625340,2	MCF-7	breast:
2	chr1:227422234..227422915-chr1:227623464..227624323,2	MCF-7	breast:
3	chr1:227500261..227502142-chr1:227623311..227626021,2	K562	blood:

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2819514	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2819523	1.00[CEU][hapmap];1.00[CHB][hapmap]

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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227616600-227625200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:227617400-227625200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:227617600-227624000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:227617600-227624400	Weak transcription	Fetal Lung	lung
5	chr1:227617600-227625200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:227617600-227625200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:227617600-227631200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:227617800-227625200	Weak transcription	Fetal Kidney	kidney
9	chr1:227617800-227625200	Weak transcription	Psoas Muscle	Psoas
10	chr1:227617800-227625200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:227617800-227625200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:227618000-227624600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:227618000-227625200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:227618600-227625200	Weak transcription	Left Ventricle	heart
15	chr1:227619600-227625200	Weak transcription	Right Ventricle	heart
16	chr1:227619600-227625400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:227619600-227628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:227619800-227624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:227619800-227625200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:227619800-227625200	Enhancers	Brain Hippocampus Middle	brain
21	chr1:227619800-227625200	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:227619800-227625200	Weak transcription	Ovary	ovary
23	chr1:227619800-227625400	Weak transcription	HSMMtube	muscle
24	chr1:227620000-227624400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:227620000-227624800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:227620000-227625200	Weak transcription	Fetal Intestine Large	intestine
27	chr1:227620000-227625200	Weak transcription	Right Atrium	heart
28	chr1:227620200-227625200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:227620400-227625200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:227620400-227625200	Weak transcription	NHLF	lung
31	chr1:227620600-227624400	Weak transcription	A549	lung
32	chr1:227620600-227624600	Weak transcription	HUVEC	blood vessel
33	chr1:227620600-227625200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:227621400-227625600	Enhancers	Fetal Brain Male	brain
35	chr1:227621800-227624600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr1:227622800-227624600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:227622800-227625200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:227623200-227624000	Weak transcription	Brain Angular Gyrus	brain
39	chr1:227623200-227624800	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:227623200-227625200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:227623200-227625200	Weak transcription	Stomach Mucosa	stomach
42	chr1:227623400-227624800	Weak transcription	K562	blood
43	chr1:227623800-227624200	Enhancers	Adipose Nuclei	Adipose
44	chr1:227623800-227625200	Enhancers	Brain Anterior Caudate	brain
45	chr1:227623800-227625200	Enhancers	Brain Cingulate Gyrus	brain
46	chr1:227623800-227625200	Enhancers	Brain Substantia Nigra	brain

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