Variant report

Variant	rs6990205
Chromosome Location	chr8:126380627-126380628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126374530..126376049-chr8:126380618..126383134,2	K562	blood:
2	chr8:126379101..126380902-chr8:126383858..126386821,2	K562	blood:
3	chr8:126375605..126377607-chr8:126380197..126382660,2	K562	blood:
4	chr8:126378716..126380659-chr8:126383858..126387902,3	K562	blood:
5	chr8:126379863..126381491-chr8:126392871..126395195,2	MCF-7	breast:
6	chr8:126377962..126381819-chr8:126440507..126443718,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction
ENSG00000156831	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs56117234	1.00[EUR][1000 genomes]
rs56988673	1.00[EUR][1000 genomes]
rs57687393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58318216	1.00[EUR][1000 genomes]
rs58818314	1.00[EUR][1000 genomes]
rs59667546	1.00[EUR][1000 genomes]
rs60051203	1.00[EUR][1000 genomes]
rs6983990	1.00[EUR][1000 genomes]
rs6992378	1.00[EUR][1000 genomes]
rs6992389	1.00[EUR][1000 genomes]
rs7001448	1.00[EUR][1000 genomes]
rs73336865	1.00[EUR][1000 genomes]
rs73704923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704928	1.00[EUR][1000 genomes]
rs73704930	1.00[EUR][1000 genomes]
rs73704939	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704957	1.00[EUR][1000 genomes]
rs7814242	1.00[EUR][1000 genomes]
rs7820336	1.00[EUR][1000 genomes]
rs7822467	1.00[EUR][1000 genomes]
rs7834583	1.00[EUR][1000 genomes]
rs7839038	1.00[EUR][1000 genomes]
rs7839468	1.00[EUR][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	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2761467	chr8:126368375-126385095	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126354000-126381200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:126354800-126381600	Weak transcription	Brain Anterior Caudate	brain
3	chr8:126354800-126383200	Weak transcription	Brain Angular Gyrus	brain
4	chr8:126361800-126383200	Weak transcription	Psoas Muscle	Psoas
5	chr8:126365600-126381200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:126367000-126381200	Weak transcription	Fetal Brain Female	brain
7	chr8:126367800-126381800	Weak transcription	HepG2	liver
8	chr8:126368200-126383200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:126369600-126382000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:126370000-126381600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:126371200-126381800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:126372600-126381000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:126372600-126381200	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:126372800-126382200	Weak transcription	Fetal Kidney	kidney
15	chr8:126372800-126383000	Weak transcription	Hela-S3	cervix
16	chr8:126372800-126383600	Weak transcription	Liver	Liver
17	chr8:126373000-126381800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:126373600-126381000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:126374000-126381800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:126375000-126381400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:126375000-126381400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:126375200-126381400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:126375200-126381400	Weak transcription	Esophagus	oesophagus
24	chr8:126375200-126381600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:126375200-126381600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:126375200-126382000	Weak transcription	Gastric	stomach
27	chr8:126375200-126383000	Weak transcription	Aorta	Aorta
28	chr8:126375400-126380800	Weak transcription	Fetal Thymus	thymus
29	chr8:126375400-126381200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr8:126375400-126381200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr8:126375400-126381400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:126375400-126381600	Weak transcription	Primary B cells from cord blood	blood
33	chr8:126375400-126381600	Weak transcription	Spleen	Spleen
34	chr8:126375400-126382600	Weak transcription	Right Ventricle	heart
35	chr8:126375400-126383200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:126375400-126383600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:126375400-126383800	Weak transcription	Primary T cells from cord blood	blood
38	chr8:126375400-126383800	Weak transcription	NHLF	lung
39	chr8:126375400-126385800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:126375400-126391000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:126375600-126381600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:126375600-126381800	Weak transcription	Placenta	Placenta
43	chr8:126375600-126383200	Weak transcription	HMEC	breast
44	chr8:126375600-126383800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:126375600-126383800	Weak transcription	NHEK	skin
46	chr8:126375800-126383000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:126375800-126383000	Weak transcription	HUVEC	blood vessel
48	chr8:126377200-126381000	Strong transcription	Fetal Stomach	stomach
49	chr8:126377200-126381200	Strong transcription	Fetal Muscle Leg	muscle
50	chr8:126377200-126381600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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