Variant report

Variant	rs200317608
Chromosome Location	chr7:127031636-127031637
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127028627..127034604-chr7:127290902..127294330,10	K562	blood:
2	chr7:127031057..127033330-chr7:127290561..127293507,3	MCF-7	breast:
3	chr7:126890989..126892929-chr7:127030143..127031828,2	K562	blood:
4	chr7:126891429..126894759-chr7:127030328..127033331,3	K562	blood:
5	chr7:127030999..127034277-chr7:127071570..127073569,4	K562	blood:
6	chr7:124568199..124570049-chr7:127030538..127032262,2	K562	blood:
7	chr7:127029421..127032644-chr7:127225849..127230043,4	K562	blood:
8	chr7:127011403..127015656-chr7:127030018..127033626,5	MCF-7	breast:
9	chr7:127029920..127034279-chr7:127291168..127294285,4	MCF-7	breast:
10	chr10:88818573..88820601-chr7:127031334..127033710,2	MCF-7	breast:
11	chr7:126985549..126992875-chr7:127029251..127034121,12	K562	blood:
12	chr7:127029926..127034103-chr7:127290516..127296284,10	K562	blood:
13	chr17:57914420..57916265-chr7:127031107..127033179,2	MCF-7	breast:
14	chr7:127030656..127034603-chr7:127225190..127230310,7	MCF-7	breast:
15	chr7:126892205..126895115-chr7:127030974..127032697,2	MCF-7	breast:
16	chr7:127030702..127032822-chr7:127225677..127228410,2	K562	blood:
17	chr7:126986612..126990415-chr7:127030676..127033732,5	MCF-7	breast:
18	chr7:126987100..126989492-chr7:127030062..127031935,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000148672	Chromatin interaction
ENSG00000179603	Chromatin interaction
ENSG00000224897	Chromatin interaction
ENSG00000128513	Chromatin interaction
ENSG00000240790	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000224138	Chromatin interaction
ENSG00000048405	Chromatin interaction
ENSG00000004059	Chromatin interaction
ENSG00000197157	Chromatin interaction
ENSG00000179562	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv3373113	chr7:127030941-127033489	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
2	nsv820163	chr7:127031590-127033207	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127030200-127032000	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr7:127030400-127031800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:127030400-127031800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
4	chr7:127030600-127032000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:127030800-127033000	Active TSS	HMEC	breast
6	chr7:127030800-127033200	Active TSS	GM12878-XiMat	blood
7	chr7:127031000-127031800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr7:127031000-127031800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr7:127031000-127031800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:127031000-127031800	Flanking Active TSS	HUVEC	blood vessel
11	chr7:127031000-127031800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr7:127031000-127033200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:127031000-127033200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:127031200-127031800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr7:127031200-127031800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr7:127031200-127031800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:127031200-127031800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:127031200-127031800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:127031200-127031800	Flanking Active TSS	Liver	Liver
20	chr7:127031200-127031800	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr7:127031200-127031800	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr7:127031200-127031800	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr7:127031200-127031800	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr7:127031200-127031800	Flanking Active TSS	Fetal Brain Female	brain
25	chr7:127031200-127031800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr7:127031200-127031800	Flanking Active TSS	Rectal Smooth Muscle	rectum
27	chr7:127031200-127033000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr7:127031200-127033200	Active TSS	HSMM	muscle
29	chr7:127031200-127033400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:127031200-127033400	Active TSS	A549	lung
31	chr7:127031200-127033600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:127031200-127033800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr7:127031200-127033800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:127031200-127034000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr7:127031200-127034000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:127031200-127034000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr7:127031200-127034000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:127031200-127034200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr7:127031200-127034200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:127031200-127034200	Active TSS	Psoas Muscle	Psoas
41	chr7:127031200-127034200	Active TSS	Right Atrium	heart
42	chr7:127031400-127031800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
43	chr7:127031400-127031800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:127031400-127031800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr7:127031400-127031800	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr7:127031400-127031800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr7:127031400-127031800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr7:127031400-127031800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:127031400-127031800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr7:127031400-127031800	Flanking Active TSS	Brain Angular Gyrus	brain

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