Variant report

Variant	rs7017507
Chromosome Location	chr8:91068994-91068995
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91066157..91069252-chr8:91070814..91073830,4	K562	blood:
2	chr8:91066837..91069760-chr8:91090559..91092238,2	K562	blood:
3	chr8:91067749..91069663-chr8:91070983..91072713,2	K562	blood:

Variant related genes	Relation type
ENSG00000104327	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12675530	0.84[AFR][1000 genomes]
rs13312853	0.83[AMR][1000 genomes]
rs16902376	0.83[AMR][1000 genomes]
rs16902465	0.83[AMR][1000 genomes]
rs16902840	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16904012	0.81[AFR][1000 genomes]
rs1805821	0.83[AMR][1000 genomes]
rs1805843	0.83[AMR][1000 genomes]
rs1805845	0.83[AMR][1000 genomes]
rs1805887	0.83[AMR][1000 genomes]
rs1805910	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58769148	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6980740	0.83[AFR][1000 genomes]
rs73291278	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73291282	0.90[AFR][1000 genomes]
rs73308364	0.85[AFR][1000 genomes]
rs73308410	0.83[AMR][1000 genomes]
rs73308442	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7817950	0.82[AFR][1000 genomes]
rs7822497	0.90[AFR][1000 genomes]
rs7834706	0.82[AFR][1000 genomes]
rs909190	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
2	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv3415723	chr8:91068729-91069229	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91052400-91069200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:91055600-91074600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:91057800-91093600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:91058000-91071400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:91058000-91085800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:91058200-91080200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:91058400-91069000	Weak transcription	Placenta	Placenta
8	chr8:91058600-91069000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr8:91058600-91069000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:91058600-91069600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:91058600-91069800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:91058600-91070200	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:91058600-91070400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:91058600-91070400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:91058600-91070800	Weak transcription	HSMMtube	muscle
16	chr8:91058600-91078000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:91058800-91069000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:91059000-91069000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:91059000-91071000	Weak transcription	Primary T cells from cord blood	blood
20	chr8:91059000-91074400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:91059000-91084800	Weak transcription	Brain Anterior Caudate	brain
22	chr8:91059400-91069800	Weak transcription	Fetal Muscle Leg	muscle
23	chr8:91061400-91071000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:91065400-91069000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr8:91065400-91069200	Weak transcription	NH-A	brain
26	chr8:91065600-91070000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:91065600-91070200	Weak transcription	Fetal Brain Male	brain
28	chr8:91065600-91070400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:91065600-91070800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:91065800-91069000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:91065800-91069400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:91065800-91069800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:91065800-91070000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:91065800-91070000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:91065800-91070000	Weak transcription	Fetal Thymus	thymus
36	chr8:91065800-91070200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:91065800-91070400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr8:91065800-91070400	Weak transcription	Fetal Intestine Large	intestine
39	chr8:91065800-91070400	Weak transcription	Thymus	Thymus
40	chr8:91065800-91072800	Weak transcription	Left Ventricle	heart
41	chr8:91066200-91083800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:91066400-91069000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:91066400-91069200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr8:91066400-91069400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:91066400-91071200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:91067000-91069000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:91067000-91070200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:91067600-91069200	Weak transcription	Liver	Liver
49	chr8:91068000-91072200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:91068000-91093200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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