Variant report

Variant	rs6679984
Chromosome Location	chr1:9900039-9900040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9893309..9896447-chr1:9898693..9902340,4	K562	blood:
2	chr1:9883565..9886441-chr1:9899353..9901395,2	K562	blood:
3	chr1:9882496..9886441-chr1:9899353..9903676,5	K562	blood:
4	chr1:9894433..9896171-chr1:9898413..9900630,2	MCF-7	breast:
5	chr1:9891298..9893582-chr1:9898696..9901196,2	K562	blood:
6	chr1:9897834..9901642-chr1:9903585..9906973,5	K562	blood:
7	chr1:9783009..9785191-chr1:9899750..9901610,2	K562	blood:

Variant related genes	Relation type
ENSG00000171603	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12066330	1.00[EUR][1000 genomes]
rs1220388	1.00[EUR][1000 genomes]
rs1220403	1.00[EUR][1000 genomes]
rs946273	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv871146	chr1:9897001-9951288	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9896000-9919200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:9896200-9903800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:9896400-9902000	Weak transcription	HSMMtube	muscle
4	chr1:9896400-9902200	Weak transcription	Right Atrium	heart
5	chr1:9896400-9903000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:9896400-9905200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:9896400-9908800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:9896600-9901400	Weak transcription	Spleen	Spleen
9	chr1:9896600-9902200	Weak transcription	Right Ventricle	heart
10	chr1:9896600-9902800	Weak transcription	Stomach Mucosa	stomach
11	chr1:9896600-9904800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:9896600-9913400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:9896800-9901400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:9896800-9901400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:9896800-9901600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:9896800-9902400	Weak transcription	Fetal Brain Female	brain
17	chr1:9896800-9906200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:9897000-9900200	Weak transcription	Fetal Brain Male	brain
19	chr1:9897000-9900200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:9897000-9901400	Weak transcription	Esophagus	oesophagus
21	chr1:9897000-9902000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:9897000-9903200	Weak transcription	Fetal Intestine Small	intestine
23	chr1:9897200-9903400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:9897400-9901400	Enhancers	NHEK	skin
25	chr1:9897400-9902600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:9898600-9904400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:9898800-9900600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr1:9899000-9900800	Enhancers	Fetal Muscle Trunk	muscle
29	chr1:9899200-9900800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:9899400-9900600	Enhancers	Brain Hippocampus Middle	brain
31	chr1:9899400-9900600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr1:9899400-9900600	Enhancers	Brain Substantia Nigra	brain
33	chr1:9899400-9900800	Enhancers	Brain Cingulate Gyrus	brain
34	chr1:9899400-9901600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:9899400-9902000	Weak transcription	Colonic Mucosa	Colon
36	chr1:9899400-9902600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:9899400-9902600	Weak transcription	Brain Anterior Caudate	brain
38	chr1:9899400-9902600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:9899600-9902600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:9899800-9901000	Enhancers	Brain Germinal Matrix	brain
41	chr1:9899800-9901000	Enhancers	HMEC	breast
42	chr1:9899800-9902600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:9900000-9900200	Enhancers	Fetal Thymus	thymus
44	chr1:9900000-9900600	Enhancers	Brain Angular Gyrus	brain

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