Variant report

Variant	rs6749005
Chromosome Location	chr2:128649042-128649043
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128647938..128649441-chr2:128784416..128786594,2	K562	blood:
2	chr2:128648232..128649800-chr2:128656131..128657633,2	K562	blood:
3	chr2:128647856..128651047-chr2:128663842..128666452,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136715	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13397060	0.93[CEU][hapmap]
rs6708734	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752995	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562106	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568998	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571272	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574303	0.93[CEU][hapmap]

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	esv3368061	chr2:128375044-128672849	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv834367	chr2:128630791-128790072	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128644400-128650600	Weak transcription	Left Ventricle	heart
2	chr2:128644400-128651000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:128644400-128651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:128644600-128649800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:128645200-128650600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:128645200-128650600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:128645400-128649200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:128645400-128649200	Weak transcription	Thymus	Thymus
9	chr2:128645400-128649200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:128645400-128650000	Weak transcription	Right Atrium	heart
11	chr2:128645400-128651000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:128645400-128659000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:128645600-128649200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:128645600-128650800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:128645600-128651000	Weak transcription	Aorta	Aorta
16	chr2:128645600-128651000	Weak transcription	Placenta	Placenta
17	chr2:128645800-128649600	Weak transcription	NH-A	brain
18	chr2:128645800-128651400	Weak transcription	Fetal Brain Female	brain
19	chr2:128645800-128654000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:128645800-128655200	Weak transcription	K562	blood
21	chr2:128645800-128659000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:128646000-128649200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:128646000-128649800	Weak transcription	NHDF-Ad	bronchial
24	chr2:128646000-128650000	Weak transcription	Right Ventricle	heart
25	chr2:128646000-128650200	Weak transcription	Liver	Liver
26	chr2:128646000-128652400	Weak transcription	Brain Germinal Matrix	brain
27	chr2:128646000-128653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:128646000-128654600	Weak transcription	Primary B cells from cord blood	blood
29	chr2:128646000-128658600	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:128646800-128649800	Weak transcription	Fetal Kidney	kidney
31	chr2:128646800-128650000	Weak transcription	HSMM	muscle
32	chr2:128647000-128649200	Weak transcription	Fetal Heart	heart
33	chr2:128647200-128649600	Weak transcription	HepG2	liver
34	chr2:128647400-128649400	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:128647400-128651000	Weak transcription	Lung	lung
36	chr2:128647400-128658600	Weak transcription	Fetal Stomach	stomach
37	chr2:128648200-128652000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:128649000-128649200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:128649000-128649400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:128649000-128649800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:128649000-128651200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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