Variant report

Variant	rs17865100
Chromosome Location	chr7:127011368-127011369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127011088..127012818-chr7:127232951..127235470,2	K562	blood:

Variant related genes	Relation type
ENSG00000106328	Chromatin interaction
ENSG00000179562	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17864930	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17865103	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17866104	1.00[MKK][hapmap]
rs17866185	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17866395	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17866916	1.00[YRI][hapmap]
rs17869706	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6959255	1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6959473	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7798749	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017145	chr7:126995304-127015459	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126987800-127020600	Weak transcription	Spleen	Spleen
2	chr7:126988400-127012600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:126988400-127013000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:126988400-127013000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:126988400-127013200	Weak transcription	NHEK	skin
6	chr7:126988400-127013400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:126988400-127014000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:126988400-127030200	Weak transcription	Fetal Intestine Small	intestine
9	chr7:126988400-127031400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:126988400-127031400	Weak transcription	Colonic Mucosa	Colon
11	chr7:126988400-127031400	Weak transcription	Pancreas	Pancrea
12	chr7:126988600-127013400	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:126989000-127031000	Weak transcription	Fetal Brain Male	brain
14	chr7:126991600-127030400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr7:126994000-127019800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr7:126995400-127022600	Strong transcription	Dnd41	blood
17	chr7:126995600-127027600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:126996200-127013000	Weak transcription	Ovary	ovary
19	chr7:126996800-127013400	Weak transcription	Fetal Kidney	kidney
20	chr7:126997000-127012800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:126997400-127031200	Weak transcription	Brain Substantia Nigra	brain
22	chr7:126998200-127020600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:126998600-127013800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:126999200-127013400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr7:126999200-127018000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:126999200-127027200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:126999400-127013000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:126999400-127031400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:126999600-127013400	Weak transcription	Fetal Brain Female	brain
30	chr7:126999600-127023200	Weak transcription	Small Intestine	intestine
31	chr7:127000200-127019600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:127000400-127013200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:127001400-127011400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr7:127001400-127013200	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:127001600-127013000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr7:127001600-127013000	Weak transcription	HepG2	liver
37	chr7:127001600-127013000	Weak transcription	NHLF	lung
38	chr7:127001600-127013200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:127001600-127013800	Weak transcription	Lung	lung
40	chr7:127001600-127013800	Weak transcription	Thymus	Thymus
41	chr7:127001600-127023200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:127001600-127027400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:127001600-127029000	Weak transcription	Aorta	Aorta
44	chr7:127001600-127031200	Weak transcription	Fetal Stomach	stomach
45	chr7:127001600-127031400	Weak transcription	Brain Angular Gyrus	brain
46	chr7:127001600-127031400	Weak transcription	Esophagus	oesophagus
47	chr7:127001600-127031400	Weak transcription	Gastric	stomach
48	chr7:127001600-127031400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr7:127001600-127031400	Weak transcription	Right Ventricle	heart
50	chr7:127001800-127011400	Weak transcription	Fetal Lung	lung

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