Variant report

Variant	rs6813690
Chromosome Location	chr4:100865926-100865927
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100813266..100817175-chr4:100865527..100871657,11	MCF-7	breast:
2	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
3	chr4:100850716..100855335-chr4:100865818..100872882,15	K562	blood:

Variant related genes	Relation type
ENSG00000164031	Chromatin interaction
ENSG00000109270	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs59943674	1.00[AFR][1000 genomes]
rs61449090	1.00[AFR][1000 genomes]
rs6811087	1.00[AFR][1000 genomes]
rs6812088	1.00[AFR][1000 genomes]
rs6828260	1.00[AFR][1000 genomes]
rs72913027	1.00[AFR][1000 genomes]
rs72913044	1.00[AFR][1000 genomes]
rs72915005	1.00[AFR][1000 genomes]
rs72915012	0.86[AFR][1000 genomes]
rs72915030	1.00[AFR][1000 genomes]
rs72915043	1.00[AFR][1000 genomes]
rs7685657	1.00[AFR][1000 genomes]
rs7688078	0.90[AFR][1000 genomes]
rs7690273	1.00[AFR][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	nsv879661	chr4:100805207-100869635	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv879662	chr4:100849466-100876648	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100816000-100867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:100816000-100867000	Weak transcription	Lung	lung
3	chr4:100816200-100866200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:100820000-100866200	Weak transcription	Fetal Heart	heart
5	chr4:100824400-100866000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:100828800-100866200	Weak transcription	Stomach Mucosa	stomach
7	chr4:100829200-100866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:100829600-100866200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:100840200-100866000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:100840200-100867000	Weak transcription	Gastric	stomach
11	chr4:100840400-100866800	Weak transcription	Aorta	Aorta
12	chr4:100840400-100867000	Weak transcription	Esophagus	oesophagus
13	chr4:100847800-100866200	Weak transcription	HSMMtube	muscle
14	chr4:100848400-100866200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:100852200-100866000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:100855800-100866000	Weak transcription	Colonic Mucosa	Colon
17	chr4:100856200-100866000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:100856800-100866000	Weak transcription	Fetal Brain Male	brain
19	chr4:100856800-100866200	Weak transcription	NH-A	brain
20	chr4:100857000-100866000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:100857000-100866200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:100857200-100866200	Weak transcription	Thymus	Thymus
23	chr4:100857200-100866200	Weak transcription	Spleen	Spleen
24	chr4:100857800-100866000	Weak transcription	Fetal Kidney	kidney
25	chr4:100857800-100866000	Weak transcription	NHLF	lung
26	chr4:100857800-100866200	Weak transcription	HMEC	breast
27	chr4:100857800-100866400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:100858000-100866000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:100858000-100866000	Weak transcription	NHDF-Ad	bronchial
30	chr4:100858000-100866200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr4:100858000-100866200	Weak transcription	Fetal Brain Female	brain
32	chr4:100858000-100866200	Weak transcription	Fetal Thymus	thymus
33	chr4:100858200-100866000	Weak transcription	Osteobl	bone
34	chr4:100858800-100866000	Weak transcription	Fetal Muscle Leg	muscle
35	chr4:100859000-100866000	Weak transcription	Fetal Stomach	stomach
36	chr4:100859000-100866000	Weak transcription	A549	lung
37	chr4:100859000-100866200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:100859000-100866200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:100859000-100867000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:100860000-100866000	Weak transcription	Liver	Liver
41	chr4:100860400-100866800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr4:100861600-100866000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:100862000-100866600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr4:100862200-100866200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:100862400-100866200	Enhancers	Primary T cells from cord blood	blood
46	chr4:100864000-100866000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr4:100864200-100866200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:100864200-100866400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr4:100864200-100866800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr4:100864200-100866800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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