Variant report

Variant	rs835668
Chromosome Location	chr1:226905727-226905728
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226904763..226906290-chr1:226916156..226917932,2	K562	blood:
2	chr1:226898138..226900809-chr1:226904974..226906566,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs708771	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs708776	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226891600-226910200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:226891800-226924800	Weak transcription	Aorta	Aorta
3	chr1:226893400-226918800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:226896200-226909800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:226896600-226910600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:226897000-226910200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:226899200-226911000	Weak transcription	Fetal Lung	lung
8	chr1:226899400-226910000	Weak transcription	Gastric	stomach
9	chr1:226899600-226911800	Weak transcription	Small Intestine	intestine
10	chr1:226900600-226910200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:226900800-226907000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:226900800-226907400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:226900800-226907400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:226900800-226907800	Weak transcription	Pancreas	Pancrea
15	chr1:226900800-226909000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:226900800-226909600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:226900800-226910000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:226900800-226911000	Weak transcription	HUVEC	blood vessel
19	chr1:226901200-226910800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:226901400-226907400	Weak transcription	Esophagus	oesophagus
21	chr1:226901600-226907000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:226901600-226907200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:226901800-226907400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:226901800-226910200	Weak transcription	Placenta	Placenta
25	chr1:226902000-226907600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:226902000-226909800	Weak transcription	Fetal Kidney	kidney
27	chr1:226902400-226907000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:226902400-226907000	Weak transcription	Dnd41	blood
29	chr1:226902400-226907400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:226902400-226907600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:226902400-226907800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:226902800-226910600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:226903000-226911000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:226903600-226906000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:226904000-226906400	Enhancers	Primary B cells from cord blood	blood
36	chr1:226904000-226906600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr1:226904000-226911800	Genic enhancers	Primary T cells fromperipheralblood	blood
38	chr1:226904200-226906800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:226904400-226905800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr1:226904400-226905800	Genic enhancers	Fetal Thymus	thymus
41	chr1:226904400-226906000	Enhancers	Primary B cells from peripheral blood	blood
42	chr1:226904400-226906200	Enhancers	Brain Anterior Caudate	brain
43	chr1:226904600-226906000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:226904600-226908200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr1:226904600-226908400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr1:226904600-226908800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:226904800-226905800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:226904800-226905800	Genic enhancers	Thymus	Thymus
49	chr1:226904800-226906200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr1:226904800-226906200	Enhancers	Stomach Smooth Muscle	stomach

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