Variant report

Variant	rs61785592
Chromosome Location	chr1:9937113-9937114
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9926113..9928520-chr1:9934932..9937483,2	MCF-7	breast:
2	chr1:9882734..9885124-chr1:9935042..9937526,2	MCF-7	breast:
3	chr1:9929847..9932811-chr1:9932993..9937666,4	K562	blood:
4	chr1:9936658..9938228-chr1:10092588..10094183,2	MCF-7	breast:
5	chr1:9935371..9937718-chr1:10091259..10093316,2	K562	blood:
6	chr1:9936836..9938925-chr1:9967640..9970664,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130939	Chromatin interaction
ENSG00000171603	Chromatin interaction
ENSG00000178585	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs61785594	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs61785597	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6680882	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs74054123	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs74054124	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7539650	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs946276	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	nsv545380	chr1:9918183-9987007	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised 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	12 gene(s)	inside rSNPs	diseases
7	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9904800-9946000	Weak transcription	Fetal Kidney	kidney
2	chr1:9918600-9943800	Weak transcription	Small Intestine	intestine
3	chr1:9927600-9941800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:9928400-9938000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:9930200-9941800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:9930800-9942200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:9930800-9949600	Weak transcription	Fetal Lung	lung
8	chr1:9932000-9942400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:9932200-9941800	Weak transcription	Primary T cells from cord blood	blood
10	chr1:9932200-9942200	Weak transcription	Thymus	Thymus
11	chr1:9932200-9942800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:9932400-9938200	Weak transcription	Gastric	stomach
13	chr1:9932600-9942600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:9932600-9960200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:9932800-9942200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:9933000-9946000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:9934000-9938000	Enhancers	Fetal Muscle Leg	muscle
18	chr1:9934600-9938800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:9934800-9938200	Enhancers	Fetal Heart	heart
20	chr1:9935000-9938800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:9935400-9937400	Weak transcription	Fetal Stomach	stomach
22	chr1:9935400-9937800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:9935400-9937800	Enhancers	Fetal Muscle Trunk	muscle
24	chr1:9935400-9937800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:9935400-9937800	Weak transcription	Hela-S3	cervix
26	chr1:9935400-9940600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:9935400-9941800	Weak transcription	NHLF	lung
28	chr1:9935400-9942000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:9935400-9942600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:9935400-9942800	Weak transcription	Colonic Mucosa	Colon
31	chr1:9935400-9944200	Weak transcription	Ovary	ovary
32	chr1:9935400-9948800	Weak transcription	Primary B cells from cord blood	blood
33	chr1:9935600-9937200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:9935600-9937600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:9935600-9937600	Weak transcription	Stomach Mucosa	stomach
36	chr1:9935600-9937800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr1:9935600-9937800	Enhancers	Brain Germinal Matrix	brain
38	chr1:9935600-9937800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:9935600-9938200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:9935600-9940600	Weak transcription	GM12878-XiMat	blood
41	chr1:9935600-9941000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr1:9935600-9941600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:9935600-9941600	Weak transcription	HSMM	muscle
44	chr1:9935600-9941800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:9935600-9941800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:9935600-9942200	Weak transcription	Lung	lung
47	chr1:9935600-9943400	Weak transcription	Pancreas	Pancrea
48	chr1:9935600-9948600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:9935600-9949200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr1:9935600-9949400	Weak transcription	HUVEC	blood vessel

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