Variant report

Variant	rs6850604
Chromosome Location	chr4:106628380-106628381
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SREBP1	chr4:106628160-106630350	GM12878	blood:	n/a	n/a
2	CTCF	chr4:106628380-106628530	HPAF	blood vessel:	n/a	n/a
3	ZNF384	chr4:106628314-106628644	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:106600442..106602529-chr4:106626797..106629772,2	K562	blood:
2	chr4:106626898..106628488-chr4:106635127..106637538,2	K562	blood:
3	chr4:106393199..106396342-chr4:106628328..106631625,4	K562	blood:
4	chr4:106619847..106624541-chr4:106627186..106631133,7	MCF-7	breast:
5	chr4:106603548..106605395-chr4:106627300..106628891,2	K562	blood:
6	chr4:106393678..106396634-chr4:106628055..106631625,3	K562	blood:
7	chr4:106616699..106623307-chr4:106623731..106631342,11	K562	blood:

No data

Variant related genes	Relation type
GSTCD	TF binding region
ENSG00000248778	Chromatin interaction
ENSG00000236699	Chromatin interaction
ENSG00000138777	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10026373	0.89[MKK][hapmap];1.00[TSI][hapmap]
rs12331437	0.91[MKK][hapmap];1.00[TSI][hapmap]
rs17036260	0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56924509	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57357762	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6812579	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6827293	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6832006	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6841297	0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6842870	0.83[AFR][1000 genomes]
rs72956940	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72960918	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72960924	0.83[AFR][1000 genomes]
rs72969249	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72969253	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72969275	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7666495	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7671981	0.98[AFR][1000 genomes]
rs7691960	1.00[AFR][1000 genomes];0.83[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	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106587800-106629000	Weak transcription	Lung	lung
2	chr4:106600400-106628600	Weak transcription	Colonic Mucosa	Colon
3	chr4:106600600-106628400	Weak transcription	Stomach Mucosa	stomach
4	chr4:106601200-106628400	Weak transcription	Psoas Muscle	Psoas
5	chr4:106602200-106629200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:106602400-106628600	Weak transcription	Right Ventricle	heart
7	chr4:106602600-106628400	Weak transcription	Fetal Heart	heart
8	chr4:106602600-106629200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:106604400-106629200	Weak transcription	Esophagus	oesophagus
10	chr4:106604400-106629200	Weak transcription	Gastric	stomach
11	chr4:106610400-106628800	Weak transcription	Fetal Kidney	kidney
12	chr4:106610600-106628600	Weak transcription	A549	lung
13	chr4:106610800-106628600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:106611400-106628600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:106613600-106628600	Weak transcription	Aorta	Aorta
16	chr4:106613600-106628600	Weak transcription	Ovary	ovary
17	chr4:106614600-106628400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:106615000-106628600	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:106615800-106628600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:106615800-106628600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:106616000-106628400	Weak transcription	NHLF	lung
22	chr4:106616000-106628600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:106616000-106629000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:106616200-106628400	Weak transcription	Brain Germinal Matrix	brain
25	chr4:106616400-106628400	Weak transcription	Thymus	Thymus
26	chr4:106616400-106628600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr4:106616800-106628600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:106616800-106628600	Weak transcription	NH-A	brain
29	chr4:106617400-106628600	Weak transcription	Fetal Intestine Large	intestine
30	chr4:106617400-106628800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:106617400-106629000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:106617400-106629000	Weak transcription	Pancreas	Pancrea
33	chr4:106617600-106628400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr4:106617600-106628400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:106619200-106628600	Weak transcription	Fetal Stomach	stomach
36	chr4:106619200-106629000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:106619400-106628600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:106619400-106628600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:106619400-106628600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr4:106620000-106628600	Weak transcription	Fetal Brain Female	brain
41	chr4:106620000-106628800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr4:106620200-106628600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr4:106620200-106628800	Weak transcription	Left Ventricle	heart
44	chr4:106620200-106629000	Weak transcription	Placenta	Placenta
45	chr4:106620400-106628600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr4:106620600-106628600	Weak transcription	NHDF-Ad	bronchial
47	chr4:106621000-106628400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr4:106621200-106628400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr4:106621200-106628400	Weak transcription	Brain Anterior Caudate	brain
50	chr4:106621200-106628600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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