Variant report

Variant	rs57662248
Chromosome Location	chr7:99973340-99973341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99972251..99974114-chr7:99997536..100000168,2	K562	blood:
2	chr7:99961248..99963871-chr7:99971979..99975112,4	K562	blood:
3	chr7:99972292..99975161-chr7:100006674..100009512,2	K562	blood:
4	chr7:99969501..99971696-chr7:99972022..99974478,3	MCF-7	breast:
5	chr7:99966406..99967976-chr7:99972194..99973946,2	MCF-7	breast:
6	chr7:99971951..99973750-chr7:99979504..99981900,2	K562	blood:

Variant related genes	Relation type
ENSG00000085514	Chromatin interaction
ENSG00000078487	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs34242818	1.00[AMR][1000 genomes]
rs57403878	1.00[AMR][1000 genomes]
rs57528748	1.00[AMR][1000 genomes]
rs60112004	1.00[AMR][1000 genomes]
rs73395957	1.00[AMR][1000 genomes]
rs73397512	1.00[AMR][1000 genomes]
rs73401429	1.00[AMR][1000 genomes]
rs73405329	1.00[AMR][1000 genomes]
rs73409003	1.00[AMR][1000 genomes]
rs7796719	1.00[AMR][1000 genomes]

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	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99934000-99977600	Weak transcription	Fetal Brain Male	brain
2	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
3	chr7:99960200-99975400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:99960400-99984800	Weak transcription	Pancreas	Pancrea
5	chr7:99960600-99975600	Weak transcription	Brain Angular Gyrus	brain
6	chr7:99960600-99977600	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:99960600-99985200	Weak transcription	Aorta	Aorta
8	chr7:99960800-99976600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:99961400-99977400	Weak transcription	Brain Substantia Nigra	brain
10	chr7:99962400-100020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:99964800-99977600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:99965200-99976800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:99965200-99979200	Weak transcription	Right Ventricle	heart
14	chr7:99966000-99974000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:99966400-99998000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:99966600-99973600	Weak transcription	Ovary	ovary
17	chr7:99967400-99974600	Weak transcription	Fetal Brain Female	brain
18	chr7:99969400-99982600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:99969800-99977000	Weak transcription	Brain Germinal Matrix	brain
20	chr7:99970200-99978600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:99970400-99973600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr7:99970400-99982400	Weak transcription	Hela-S3	cervix
23	chr7:99970600-99974000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:99970600-99978800	Weak transcription	Primary T cells from cord blood	blood
25	chr7:99970800-99981600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:99971000-99975400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:99971000-99975400	Weak transcription	Lung	lung
28	chr7:99971000-99977600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:99971000-99979600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:99971400-99973800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:99971400-99976800	Weak transcription	Placenta	Placenta
32	chr7:99971400-99977400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:99971400-99978000	Weak transcription	Fetal Stomach	stomach
34	chr7:99971400-99981600	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:99971600-99976200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr7:99971600-99976400	Weak transcription	Fetal Intestine Small	intestine
37	chr7:99971800-99973400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:99972000-99974400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
39	chr7:99972000-99975800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:99972200-99973400	Weak transcription	K562	blood
41	chr7:99972200-99977400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:99972200-99984600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:99972400-99974800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
44	chr7:99972600-99973800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
45	chr7:99972600-99974000	Active TSS	GM12878-XiMat	blood
46	chr7:99972600-99976800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:99972600-99977400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:99972600-99996000	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:99972800-99978000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr7:99972800-99979800	Weak transcription	Adipose Nuclei	Adipose

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