Variant report

Variant	rs61658240
Chromosome Location	chr1:94073160-94073161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94070552..94073246-chr1:94081177..94083185,2	MCF-7	breast:
2	chr1:94059426..94061780-chr1:94073098..94074619,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224093	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10489541	0.87[AMR][1000 genomes]
rs72963382	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
2	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
3	chr1:94060200-94078800	Weak transcription	Colonic Mucosa	Colon
4	chr1:94061200-94078800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:94064400-94073800	Weak transcription	Aorta	Aorta
6	chr1:94064400-94074200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:94064800-94073200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:94065000-94073800	Weak transcription	Esophagus	oesophagus
9	chr1:94065000-94073800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:94066200-94073800	Weak transcription	Fetal Stomach	stomach
11	chr1:94066400-94079200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:94066400-94079600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:94068200-94079200	Genic enhancers	HSMM	muscle
14	chr1:94068800-94075800	Enhancers	HSMMtube	muscle
15	chr1:94069400-94073200	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:94069400-94074400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:94069600-94075800	Genic enhancers	Hela-S3	cervix
18	chr1:94070000-94073800	Enhancers	Osteobl	bone
19	chr1:94070000-94075200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:94070000-94075800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:94070200-94073800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:94070200-94076000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:94070200-94076800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:94070400-94073400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:94070600-94073200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:94070600-94073200	Weak transcription	Spleen	Spleen
27	chr1:94070800-94074000	Weak transcription	Pancreas	Pancrea
28	chr1:94070800-94079200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:94071000-94075000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:94071200-94076000	Enhancers	HUVEC	blood vessel
31	chr1:94071400-94073600	Enhancers	HMEC	breast
32	chr1:94071400-94073800	Enhancers	NHEK	skin
33	chr1:94071400-94075400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:94071400-94076000	Enhancers	Right Atrium	heart
35	chr1:94071600-94073200	Weak transcription	Stomach Mucosa	stomach
36	chr1:94071600-94075800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:94071600-94076000	Enhancers	Gastric	stomach
38	chr1:94071600-94079400	Weak transcription	Small Intestine	intestine
39	chr1:94071800-94073200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:94071800-94073800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr1:94071800-94073800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:94071800-94074000	Weak transcription	Brain Germinal Matrix	brain
43	chr1:94071800-94075400	Enhancers	NH-A	brain
44	chr1:94071800-94078200	Enhancers	Liver	Liver
45	chr1:94071800-94079200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:94071800-94079800	Weak transcription	Fetal Kidney	kidney
47	chr1:94072000-94073400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr1:94072000-94074400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr1:94072000-94075600	Enhancers	Right Ventricle	heart
50	chr1:94072000-94076000	Enhancers	Left Ventricle	heart

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